Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.K148R
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SBDS

NM_016038.4:p.K148R

Associated Papers

Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.

Bezzerri V et al.

Molecular Diagnosis & Therapy, 2019

Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome.

Shammas C et al.

The Journal of Biological Chemistry, 2005

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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."