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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARHGAP39

Variant:p.D74insFs

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ARHGAP39

NM_025251.3:p.D74insFs

hg38:chr8:144581132 T>TG

Associated Papers

A homozygous variant in ARHGAP39 is associated with lethal cerebellar vermis hypoplasia in a consanguineous Saudi family.

Alayoubi AM et al.

Scientific Reports, 2024

39455833 (PubMed )

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