Varaico: Literature-Extracted Genetic Variants

Gene:SHPK
Variant:p.R119*
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SHPK

NM_013276.4:p.R119*

Associated Papers

Characterization of rare germline variants in familial multiple myeloma.

Catalano C et al.

Blood Cancer Journal, 2021

33583942 (PubMed )
Supplement: 41408_2021_422_MOESM1_ESM.pdf

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

Wamelink MM et al.

Journal of Inherited Metabolic Disease, 2015

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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."