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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NFATC2

Variant:p.Y675fs

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NFATC2

NM_012340.5:p.Y675fs

hg38:chr20:51435197 GTA>N

Associated Papers

Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.

Sharma M et al.

Blood, 2022

35789258 (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."