Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1E1
Variant:p.M1L
Back to variants list

ATP6V1E1

NM_001696.4:p.M1L

Associated Papers

Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.

Morlino S et al.

American Journal of Medical Genetics. Part A, 2021

A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency.

Ammann S et al.

Clinical and Experimental Immunology, 2014

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."