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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APCS

Variant:p.L176*

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APCS

NM_001639.4:p.L176*

hg38:chr1:159588563 T>A

Associated Papers

Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene.

Arico M et al.

Blood, 2001

11159547 (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."