Varaico: Literature-Extracted Genetic Variants

Gene:PSTPIP1
Variant:p.Q219*
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PSTPIP1

NM_003978.5:p.Q219*

Associated Papers

Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Jain A et al.

Journal, Genetic Engineering & Biotechnology, 2021

34905135 (PubMed )
Supplement: 43141_2021_268_MOESM2_ESM.xlsx › Sheet1

National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies.

Elsink K et al.

European Journal of Human Genetics : Ejhg, 2021

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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."