TG c.4795C>T ;(p.P1599S)

Variant ID: 8-133941416-C-T

NM_003235.4(TG):c.4795C>T;(p.P1599S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutations in the CHD7 gene: the experience of a commercial laboratory.

Genetic Testing And Molecular Biomarkers
Bartels, Cynthia F CF; Scacheri, Cheryl C; White, Lashonda L; Scacheri, Peter C PC; Bale, Sherri S
Publication Date: 2010-12

Variant appearance in text: TG: 4795C>T
PubMed Link: 21158681
Variant Present in the following documents:
  • Main text
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