Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD2
Variant:p.A32fs
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SMARCD2

NM_001098426.2:p.A32fs

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

Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis.

Yucel E et al.

Journal of Clinical Immunology, 2021

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