Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.R133fs
Back to variants list

SMN1

NM_000344.4:p.R133fs

Associated Papers

Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next.

Wirth B et al.

Annual Review of Genomics and Human Genetics, 2020

Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy.

Qu YJ et al.

The Journal of Molecular Diagnostics : Jmd, 2016

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."