Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD2
Variant:p.Q171*
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SMARCD2

NM_001098426.2:p.Q171*

Associated Papers

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

Brouwer MAE et al.

Ejhaem, 2025

Specific Granule Deficiency Due To Novel Homozygote SMARCD2 Variant.

Kihtir Z et al.

Pediatric Allergy, Immunology, and Pulmonology, 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."