Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD2
Variant:p.S394fs
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SMARCD2

NM_001098426.2:p.S394fs

Associated Papers

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

Brouwer MAE et al.

Ejhaem, 2025

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

Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes.

Witzel M et al.

Nature Genetics, 2017

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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."