LONP1 c.1387G>A ;(p.D463N)

Variant ID: 19-5700919-C-T

NM_004793.3(LONP1):c.1387G>A;(p.D463N)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.

Movement Disorders Clinical Practice
Gauquelin, Laurence L; Hartley, Taila T; Tarnopolsky, Mark M; Dyment, David A DA; Brais, Bernard B; Geraghty, Michael T MT; Tétreault, Martine M; Ahmed, Sohnee S; Rojas, Samantha S; Choquet, Karine K; Majewski, Jacek J; Bernier, François F; Innes, Allan Micheil AM; Rouleau, Guy G; Suchowersky, Oksana O; Boycott, Kym M KM; Yoon, Grace G
Publication Date: 2020-11

Variant appearance in text: LONP1: 1387G>A; Asp463Asn
PubMed Link: 33163565
Variant Present in the following documents:
  • Main text
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