Varaico: Literature-Extracted Genetic Variants

Gene:GFPT1
Variant:p.D131E
Back to variants list

GFPT1

NM_001244710.2:p.D131E

Associated Papers

Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.

Yiş U et al.

Journal of Child Neurology, 2017

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."