HEXA c.744C>T ;(p.L248=)

Variant ID: 15-72642920-G-A

NM_000520.4(HEXA):c.744C>T;(p.L248=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.

Frontiers In Molecular Neuroscience
Krüger, Stefanie S; Battke, Florian F; Sprecher, Andrea A; Munz, Marita M; Synofzik, Matthis M; Schöls, Ludger L; Gasser, Thomas T; Grehl, Torsten T; Prudlo, Johannes J; Biskup, Saskia S
Publication Date: 2016

Variant appearance in text: HEXA: 744C>T
PubMed Link: 27790088
Variant Present in the following documents:
  • Main text
  • fnmol-09-00092.pdf
View BVdb publication page