Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome.
about
Non-homologous end joining repair mechanism-mediated deletion of CHD7 gene in a patient with typical CHARGE syndrome.Three novel mutations of CHD7 gene in two turkish patients with charge syndrome; A double point mutation and an insertion.Identification of novel candidate disease genes from de novo exonic copy number variants.Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient.
P2860
Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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2013年学术文章
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@zh-cn
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@zh-hans
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2013年學術文章
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2013年學術文章
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name
Evidence for replicative mecha ...... patient with CHARGE syndrome.
@en
Evidence for replicative mecha ...... patient with CHARGE syndrome.
@nl
type
label
Evidence for replicative mecha ...... patient with CHARGE syndrome.
@en
Evidence for replicative mecha ...... patient with CHARGE syndrome.
@nl
prefLabel
Evidence for replicative mecha ...... patient with CHARGE syndrome.
@en
Evidence for replicative mecha ...... patient with CHARGE syndrome.
@nl
P2093
P2860
P356
P1476
Evidence for replicative mecha ...... patient with CHARGE syndrome.
@en
P2093
Alecia S Willis
Christine M Eng
James R Lupski
Katherine G Spoonamore
Matteo Vatta
Philip Putnam
P2860
P304
P356
10.1002/AJMG.A.36178
P407
P577
2013-08-16T00:00:00Z