Varaico: Literature-Extracted Genetic Variants

Gene:CARMIL2
Variant:p.V181M
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CARMIL2

NM_001013838.3:p.V181M

Associated Papers

Hyperinflammatory Immune Response in COVID-19: Host Genetic Factors in Pyrin Inflammasome and Immunity to Virus in a Spanish Population from Majorca Island.

Martínez-Pomar N et al.

Biomedicines, 2023

Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.

Lévy R et al.

The Journal of Experimental Medicine, 2023

iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.

Melguizo-Sanchis D et al.

Cell Death & Disease, 2018

29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA1_Deleterious_Hits

Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Cornelius A et al.

Frontiers in Pharmacology, 2017

28993730 (PubMed )
Supplement: Table3.xlsx › Germline
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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."