Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.V130L
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SBDS

NM_016038.4:p.V130L

Associated Papers

Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.

Tsangaris E et al.

Journal of Medical Genetics, 2011

Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation.

Hashmi SK et al.

Clinical Genetics, 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."