Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.Y362insFs
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ACTB

NM_001101.5:p.Y362insFs

Associated Papers

Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.

Valencia AM et al.

Nature Genetics, 2023

37500730 (PubMed )
Supplement: 41588_2023_1451_MOESM2_ESM.xlsx › SuppTable1Copied_230419

Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study.

Atmar K et al.

Frontiers in Immunology, 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."