Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.V43Splc
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SBDS

NM_016038.4:p.V43Splc

Associated Papers

Integrated proteogenomic analysis for inherited bone marrow failure syndrome.

Wakamatsu M et al.

Leukemia, 2024

38740980 (PubMed )
Supplement: 41375_2024_2263_MOESM2_ESM.xlsx › Table_S4

Application of extensively targeted next-generation sequencing for the diagnosis of primary immunodeficiencies.

Kojima D et al.

The Journal of Allergy and Clinical Immunology, 2016

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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."