Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.
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Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.
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2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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name
Novel pathogenic variant (c.31 ...... dentified by exome sequencing.
@ast
Novel pathogenic variant (c.31 ...... dentified by exome sequencing.
@en
type
label
Novel pathogenic variant (c.31 ...... dentified by exome sequencing.
@ast
Novel pathogenic variant (c.31 ...... dentified by exome sequencing.
@en
prefLabel
Novel pathogenic variant (c.31 ...... dentified by exome sequencing.
@ast
Novel pathogenic variant (c.31 ...... dentified by exome sequencing.
@en
P2093
P2860
P1476
Novel pathogenic variant (c.31 ...... identified by exome sequencing
@en
P2093
Chang Seok Ki
Chang Woo Lee
Jin Kyung Kim
P2860
P304
P356
10.3343/ALM.2015.35.6.639
P50
P577
2015-11-01T00:00:00Z