PKP1 c.283G>C ;(p.G95R)

Variant ID: 1-201263150-G-C

NM_001005337.2(PKP1):c.283G>C;(p.G95R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin.

The Journal Of Allergy And Clinical Immunology
McAleer, Maeve A MA; Pohler, Elizabeth E; Smith, Frances J D FJ; Wilson, Neil J NJ; Cole, Christian C; MacGowan, Stuart S; Koetsier, Jennifer L JL; Godsel, Lisa M LM; Harmon, Robert M RM; Gruber, Robert R; Crumrine, Debra D; Elias, Peter M PM; McDermott, Michael M; Butler, Karina K; Broderick, Annemarie A; Sarig, Ofer O; Sprecher, Eli E; Green, Kathleen J KJ; McLean, W H Irwin WH; Irvine, Alan D AD
Publication Date: 2015-11

Variant appearance in text: PKP1: Gly95Arg
PubMed Link: 26073755
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page