Varaico: Literature-Extracted Genetic Variants

Gene:EGFLAM
Variant:p.Q629_F634del0
Back to variants list

EGFLAM

NM_152403.4:p.Q629_F634del0

Associated Papers

A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.

Al-Muhaizea MA et al.

Cerebellum (london, England), 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."