Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L3
Variant:p.S109I
Back to variants list

EPB41L3

NM_012307.5:p.S109I

Associated Papers

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.

Handley MT et al.

Plos Genetics, 2019

Exome sequencing-based identification of novel type 2 diabetes risk allele loci in the Qatari population.

O'Beirne SL et al.

Plos One, 2018

Multiple meningiomas: Investigating the molecular basis of sporadic and familial forms.

Heinrich B et al.

International Journal of Cancer, 2003

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."