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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KALRN

Variant:p.V80M

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KALRN

NM_001388419.1:p.V80M

hg38:chr3:124234918 G>A

Associated Papers

Identification and characterization of a novel variant of the human P2X(7) receptor resulting in gain of function.

Sun C et al.

Purinergic Signalling, 2010

19838818 (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."