PC c.487G>A ;(p.G163S)

Variant ID: 11-66638786-C-T

NM_001040716.1(PC):c.487G>A;(p.G163S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The molecular genetic analysis of the expanding pachyonychia congenita case collection.

The British Journal Of Dermatology
Wilson, N J NJ; O'Toole, E A EA; Milstone, L M LM; Hansen, C D CD; Shepherd, A A AA; Al-Asadi, E E; Schwartz, M E ME; McLean, W H I WH; Sprecher, E E; Smith, F J D FJ
Publication Date: 2014-08

Variant appearance in text: PC: 487G>A
PubMed Link: 24611874
Variant Present in the following documents:
  • Main text
View BVdb publication page