Varaico: Literature-Extracted Genetic Variants

Gene:MPEG1
Variant:p.Q398*
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MPEG1

NM_001039396.2:p.Q398*

Associated Papers

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

Exome Sequencing in Individuals with Isolated Biliary Atresia.

Rajagopalan R et al.

Scientific Reports, 2020

32066793 (PubMed )
Supplement: 41598_2020_59379_MOESM2_ESM.xlsx › Supp.Table_2_all_variants

Pathophysiology and Genetics of Bronchiectasis Unrelated to Cystic Fibrosis.

Nikolic A

Lung, 2018

MPEG1/perforin-2 mutations in human pulmonary nontuberculous mycobacterial infections.

McCormack RM et al.

Jci Insight, 2017

Pulmonary Nontuberculous Mycobacterial Infection. A Multisystem, Multigenic Disease.

Szymanski EP et al.

American Journal of Respiratory and Critical Care Medicine, 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."