Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.E49K
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SBDS

NM_016038.4:p.E49K

Associated Papers

TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer.

da Silva EM et al.

Npj Breast Cancer, 2021

33863915 (PubMed )
Supplement: 41523_2021_250_MOESM1_ESM.pdf

Mislocalization or low expression of mutated Shwachman-Bodian-Diamond syndrome protein.

Yamaguchi M et al.

International Journal of Hematology, 2011

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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."