Varaico: Literature-Extracted Genetic Variants

Gene:EPOR
Variant:p.S408C
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EPOR

NM_000121.4:p.S408C

Associated Papers

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.

Noetzli L et al.

Nature Genetics, 2015

25807284 (PubMed )
Supplement: NIHMS667792-supplement-1.docx
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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."