HEXA c.217T>A ;(p.F73I)

Variant ID: 15-72668097-A-T

NM_000520.4(HEXA):c.217T>A;(p.F73I)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Blauwendraat, Cornelis C; Wilke, Carlo C; Simón-Sánchez, Javier J; Jansen, Iris E IE; Reifschneider, Anika A; Capell, Anja A; Haass, Christian C; Castillo-Lizardo, Melissa M; Biskup, Saskia S; Maetzler, Walter W; Rizzu, Patrizia P; Heutink, Peter P; Synofzik, Matthis M
Publication Date: 2018-02

Variant appearance in text: HEXA: F73I
PubMed Link: 28749476
Variant Present in the following documents:
  • gim2017102x4.xlsx, sheet 2
View BVdb publication page