Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD2
Variant:p.Q361delFs
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SMARCD2

NM_001098426.2:p.Q361delFs

Associated Papers

Novel Nonsense Mutation in SMARCD2 Gene Results in Dysplasia of All Myeloid Cell Lines.

Brouwer MAE et al.

Ejhaem, 2025

Congenital Neutropenia with Specific Granulocyte Deficiency Caused by Novel Double Heterozygous SMARCD2 Mutations.

Ibrahim A et al.

Hematology Reports, 2022

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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."