Varaico: Literature-Extracted Genetic Variants

Gene:MPEG1
Variant:p.P316S
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MPEG1

NM_001039396.2:p.P316S

Associated Papers

An explainable model of host genetic interactions linked to COVID-19 severity.

Onoja A et al.

Communications Biology, 2022

36289370 (PubMed )
Supplement: 42003_2022_4073_MOESM4_ESM.xlsx › S1

MPEG1/Perforin-2 Haploinsufficiency Associated Polymicrobial Skin Infections and Considerations for Interferon-γ Therapy.

Merselis LC et al.

Frontiers in Immunology, 2020

Pathophysiology and Genetics of Bronchiectasis Unrelated to Cystic Fibrosis.

Nikolic A

Lung, 2018

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › c__Freq_TP092

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."