Varaico: Literature-Extracted Genetic Variants

Gene:SNX14
Variant:p.E773_R774delFs
Back to variants list

SNX14

NM_153816.6:p.E773_R774delFs

Associated Papers

Exploring the Genetic Variations Underlying SNX14-Linked Autosomal Recessive Spinocerebellar Ataxia Type 20: A Case Series of 17 Patients From a Single Center in the Omani Population and Review of Literature.

Al Shamsi B et al.

American Journal of Medical Genetics. Part A, 2025

Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability.

Al-Hashmi N et al.

Case Reports in Genetics, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."