Varaico: Literature-Extracted Genetic Variants

Gene:NIPA1
Variant:p.L233P
Back to variants list

NIPA1

NM_144599.5:p.L233P

Associated Papers

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.

Arnoldi A et al.

Human Mutation, 2008

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."