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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSTPIP2

Variant:p.E250Q

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PSTPIP2

NM_024430.4:p.E250Q

hg38:chr18:45992196 C>G

Associated Papers

Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review.

Smith EJ et al.

Current Genomics, 2010

21532836 (PubMed )

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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."