HEXA c.1279_1280delinsAT ;(p.Y427I)

Variant ID: 15-72638918-TA-AT

NM_000520.4(HEXA):c.1279_1280delinsAT;(p.Y427I)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease.

Plos One
Clark, Lorraine N LN; Chan, Robin R; Cheng, Rong R; Liu, Xinmin X; Park, Naeun N; Parmalee, Nancy N; Kisselev, Sergey S; Cortes, Etty E; Torres, Paola A PA; Pastores, Gregory M GM; Vonsattel, Jean P JP; Alcalay, Roy R; Marder, Karen K; Honig, Lawrence L LL; Fahn, Stanley S; Mayeux, Richard R; Shelanski, Michael M; Di Paolo, Gilbert G; Lee, Joseph H JH
Publication Date: 2015

Variant appearance in text: HEXA: Y427I
PubMed Link: 25933391
Variant Present in the following documents:
  • Main text
  • pone.0125204.pdf
View BVdb publication page