Identification of C12orf4 as a gene for autosomal recessive intellectual disability.
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Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigreeGeneHancer: genome-wide integration of enhancers and target genes in GeneCards.Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
P2860
Identification of C12orf4 as a gene for autosomal recessive intellectual disability.
description
2016 nî lūn-bûn
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2016年の論文
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2016年学术文章
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2016年学术文章
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name
Identification of C12orf4 as a gene for autosomal recessive intellectual disability.
@en
Identification of C12orf4 as a gene for autosomal recessive intellectual disability.
@nl
type
label
Identification of C12orf4 as a gene for autosomal recessive intellectual disability.
@en
Identification of C12orf4 as a gene for autosomal recessive intellectual disability.
@nl
prefLabel
Identification of C12orf4 as a gene for autosomal recessive intellectual disability.
@en
Identification of C12orf4 as a gene for autosomal recessive intellectual disability.
@nl
P2093
P2860
P50
P356
P1433
P1476
Identification of C12orf4 as a gene for autosomal recessive intellectual disability
@en
P2093
A K Philips
A Mustonen
C I de Bie
P2860
P304
P356
10.1111/CGE.12821
P577
2016-07-12T00:00:00Z