Publications:

Chorea-acanthocytosis: 3 New Families with Novel Genetic and Metabolic Findings.

Annals Of Indian Academy Of Neurology

Abbas, Mirza Masoom MM; Thenral, S G SG; Ramprasad, Vedam L VL; Walker, Ruth H RH; Kukkle, Prashanth Lingappa PL

Publication Date: 2021

Variant appearance in text: VPS13A: 4326T>A; Tyr1442*

PubMed Link: 34447025

Variant Present in the following documents:

• AIAN-24-452.pdf

View BVdb publication page

Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation.

Frontiers In Neurology

Weber, Juliane J; Frings, Lars L; Rijntjes, Michel M; Urbach, Horst H; Fischer, Judith J; Weiller, Cornelius C; Meyer, Philipp T PT; Klebe, Stephan S

Publication Date: 2018

Variant appearance in text: VPS13A: 4326T>A; Tyr1442*

PubMed Link: 30687222

Variant Present in the following documents:

• Main text
• fneur-09-01168.pdf

View BVdb publication page