Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA1
Variant:p.R259G
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SMARCA1

NM_001282874.2:p.R259G

Associated Papers

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Mirzaa GM et al.

Nature Communications, 2025

Hemizygous SMARCA1 variants cause X-linked intellectual disability.

Nishimura N et al.

Journal of Human Genetics, 2025

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Picketts D et al.

Research Square, 2023

Concurrent Waldenstrom's Macroglobulinemia and Myelodysplastic Syndrome with a Sequent t(10;13)(p13;q22) Translocation.

DeRosa PA et al.

Current Oncology (toronto, Ont.), 2022

Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.

Williams EA et al.

Acta Neuropathologica Communications, 2020

33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1
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