Varaico: Literature-Extracted Genetic Variants

Gene:A2ML1
Variant:p.R1001W
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A2ML1

NM_144670.6:p.R1001W

Associated Papers

Cryo-EM structures of human A2ML1 elucidate the protease-inhibitory mechanism of the A2M family.

Nielsen NS et al.

Nature Communications, 2022

35641520 (PubMed )
Supplement: 41467_2022_30758_MOESM1_ESM.pdf

A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.

Larson ED et al.

Human Mutation, 2019

A novel class of somatic mutations in blood detected preferentially in CD8+ cells.

Valori M et al.

Clinical Immunology (orlando, Fla.), 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Rare A2ML1 variants confer susceptibility to otitis media.

Santos-Cortez RL et al.

Nature Genetics, 2015

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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."