Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.P133S
Back to variants list

C2

NM_000063.6:p.P133S

Associated Papers

A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family.

Cotti Piccinelli S et al.

Frontiers in Neurology, 2019

A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.

Polymeris AA et al.

Journal of Neurology, 2016

PAX4 gene variations predispose to ketosis-prone diabetes.

Mauvais-Jarvis F et al.

Human Molecular Genetics, 2004

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."