Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA1
Variant:p.Q136R
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SMARCA1

NM_001282874.2:p.Q136R

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

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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."