About: covid:PMC7197230

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About: covid:PMC7197230 Goto Sponge NotDistinct Permalink

An Entity of Type : owl:Thing, within Data Space : wasabi.inria.fr associated with source document(s)

Attributes	Values
Creator	Crowley, T. Demaerel, Wolfram Emanuel, Beverly Geremek, Maciej Graham, Gail Hestand, Matthew Kammoun, Molka McDonald-McGinn, Donna Nowakowska, Beata Unolt, Marta Vermeesch, Joris Zackai, Elaine
is schema:about of	named entity 'patients' named entity 'Pathogenic' named entity 'CDC45' named entity 'VARIANTS' named entity 'ALLELE' named entity 'PATHOGENIC' named entity 'CONDITION' named entity 'chromosome 22q11' named entity 'allele' named entity 'Pathogenic variants' named entity 'anorectal malformations' named entity 'TWIST1' named entity 'untranslated regions' named entity 'spontaneous vaginal delivery' named entity 'phenotype' named entity 'human genome' named entity 'FISH' named entity 'missense' named entity 'homozygous' named entity '22q11.2' named entity 'schizophrenia' named entity 'C-section' named entity 'allele' named entity 'left subclavian artery' named entity 'Family history' named entity 'urine organic acids' named entity 'craniosynostosis' named entity 'microarray' named entity 'developmental anomalies' named entity 'CDC45' named entity 'CDC45' named entity 'correlation' named entity 'dbSNP' named entity 'vascular ring' named entity 'CDC45' named entity '22q11.2' named entity 'clinical findings' named entity 'accessory spleen' named entity 'paired-end' named entity '22q11.2' named entity 'correlation' named entity 'developmental delay' named entity 'ABCA4' named entity 'CHOP' named entity 'upper limb' named entity 'Exome Sequencing' named entity 'subluxation' named entity 'craniosynostosis' named entity 'phenotype' named entity 'physical exam' named entity 'PCR' named entity 'congenital' named entity '22q11.2' named entity 'allele' named entity 'hernia' named entity 'urinary tract infections' named entity 'SNP' named entity 'fetal heart rate' named entity 'craniosynostosis' named entity 'lymphopenia' named entity 'SNAP29' named entity 'otitis media' named entity 'sacral dimple' named entity 'phenotype' named entity 'hypernasal speech' named entity 'craniosynostosis' named entity 'NimbleGen' named entity 'RecQ' named entity 'craniosynostosis' named entity 'messenger RNAs' named entity 'missense' named entity 'learning disability' named entity 'CDC45' named entity 'cartilage' named entity 'pathogenicity' named entity '22q11.2 deletion syndrome' named entity 'differential diagnosis' named entity 'amino acids' named entity 'hypocalcemia' named entity 'CDC45' named entity 'Enterobacter cloacae' named entity 'CDC45' named entity 'hypomorphic' named entity 'SIFT' named entity 'immunodeficiency' named entity 'humoral' named entity 'allele' named entity 'allele'

Attributes

Values

Creator

Crowley, T.
Demaerel, Wolfram
Emanuel, Beverly
Geremek, Maciej
Graham, Gail
Hestand, Matthew
Kammoun, Molka
McDonald-McGinn, Donna
Nowakowska, Beata
Unolt, Marta
Vermeesch, Joris
Zackai, Elaine

is schema:about of

named entity 'patients'
named entity 'Pathogenic'
named entity 'CDC45'
named entity 'VARIANTS'
named entity 'ALLELE'
named entity 'PATHOGENIC'
named entity 'CONDITION'
named entity 'chromosome 22q11'
named entity 'allele'
named entity 'Pathogenic variants'
named entity 'anorectal malformations'
named entity 'TWIST1'
named entity 'untranslated regions'
named entity 'spontaneous vaginal delivery'
named entity 'phenotype'
named entity 'human genome'
named entity 'FISH'
named entity 'missense'
named entity 'homozygous'
named entity '22q11.2'
named entity 'schizophrenia'
named entity 'C-section'
named entity 'allele'
named entity 'left subclavian artery'
named entity 'Family history'
named entity 'urine organic acids'
named entity 'craniosynostosis'
named entity 'microarray'
named entity 'developmental anomalies'
named entity 'CDC45'
named entity 'CDC45'
named entity 'correlation'
named entity 'dbSNP'
named entity 'vascular ring'
named entity 'CDC45'
named entity '22q11.2'
named entity 'clinical findings'
named entity 'accessory spleen'
named entity 'paired-end'
named entity '22q11.2'
named entity 'correlation'
named entity 'developmental delay'
named entity 'ABCA4'
named entity 'CHOP'
named entity 'upper limb'
named entity 'Exome Sequencing'
named entity 'subluxation'
named entity 'craniosynostosis'
named entity 'phenotype'
named entity 'physical exam'
named entity 'PCR'
named entity 'congenital'
named entity '22q11.2'
named entity 'allele'
named entity 'hernia'
named entity 'urinary tract infections'
named entity 'SNP'
named entity 'fetal heart rate'
named entity 'craniosynostosis'
named entity 'lymphopenia'
named entity 'SNAP29'
named entity 'otitis media'
named entity 'sacral dimple'
named entity 'phenotype'
named entity 'hypernasal speech'
named entity 'craniosynostosis'
named entity 'NimbleGen'
named entity 'RecQ'
named entity 'craniosynostosis'
named entity 'messenger RNAs'
named entity 'missense'
named entity 'learning disability'
named entity 'CDC45'
named entity 'cartilage'
named entity 'pathogenicity'
named entity '22q11.2 deletion syndrome'
named entity 'differential diagnosis'
named entity 'amino acids'
named entity 'hypocalcemia'
named entity 'CDC45'
named entity 'Enterobacter cloacae'
named entity 'CDC45'
named entity 'hypomorphic'
named entity 'SIFT'
named entity 'immunodeficiency'
named entity 'humoral'
named entity 'allele'
named entity 'allele'

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