Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.D70N
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SBDS

NM_016038.4:p.D70N

Associated Papers

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."