LIPA c.428+393A>G

Variant ID: 10-90987564-T-C

NM_000235.2(LIPA):c.428+393A>G

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.

Neurogenetics
Bernard, Geneviève G; Thiffault, Isabelle I; Tetreault, Martine M; Putorti, Maria Lisa ML; Bouchard, Isabelle I; Sylvain, Michel M; Melançon, Serge S; Laframboise, Rachel R; Langevin, Pierre P; Bouchard, Jean-Pierre JP; Vanasse, Michel M; Vanderver, Adeline A; Sébire, Guillaume G; Brais, Bernard B
Publication Date: 2010-10

Variant appearance in text: rs2071510
PubMed Link: 20640464
Variant Present in the following documents:
  • Main text
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