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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SAMD9

Variant:p.S986C

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SAMD9

NM_017654.4:p.S986C

hg38:chr7:93103141 G>C

Associated Papers

In trans early mosaic mutational escape and novel phenotypic features of germline SAMD9 mutation.

Hockings C et al.

British Journal of Haematology, 2020

31900929 (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."