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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SAMD9L

Variant:p.S608fs

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SAMD9L

NM_152703.5:p.S608fs

hg38:chr7:93134150 ACT>N

Associated Papers

A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia.

Cheah JJC et al.

Haematologica, 2019

30923096 (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."