PC c.1087_1089delinsTGT ;(p.R363C)

Variant ID: 11-66633754-CCG-ACA

NM_001040716.1(PC):c.1087_1089delinsTGT;(p.R363C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study.

Orphanet Journal Of Rare Diseases
Andreotti, Giuseppina G; Guarracino, Mario R MR; Cammisa, Marco M; Correra, Antonella A; Cubellis, Maria Vittoria MV
Publication Date: 2010-12-07

Variant appearance in text: PC: R363C
PubMed Link: 21138548
Variant Present in the following documents:
  • Main text
  • 1750-1172-5-36.pdf
View BVdb publication page