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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACVR1

Variant:p.S58insFs

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ACVR1

NM_001111067.4:p.S58insFs

hg38:chr2:157780493 T>TG

Associated Papers

Expanding the Clinical Spectrum of NR4A2-Related Disorder: A Systematic Literature Review and Case Series.

Borden C et al.

American Journal of Medical Genetics. Part A, 2025

40497586 (PubMed )

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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."