VPS13A c.1592del ;(p.I531Kfs*7)

Variant ID: 9-79843177-AT-A

NM_033305.2(VPS13A):c.1592del;(p.I531Kfs*7)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Late Emergence of Parkinsonian Phenotype and Abnormal Dopamine Transporter Scan in Chorea-Acanthocytosis.

Movement Disorders Clinical Practice
Nagy, Anna A; Noyce, Alastair A; Velayos-Baeza, Antonio A; Lees, Andrew J AJ; Warner, Thomas T TT; Ling, Helen H
Publication Date: 2015-06

Variant appearance in text: VPS13A: 1592delT; I531KfsX7
PubMed Link: 30713892
Variant Present in the following documents:
  • Main text
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