Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL9
Variant:p.P276L
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OSBPL9

NM_148909.4:p.P276L

Associated Papers

The First Known Case Report of a Novel Homozygous Nonsense Variant in the OSBPL9 Gene Associated With Fetal Cerebral Ventriculomegaly, Cerebellar Hypoplasia, and Arthrogryposis Multiplex.

Tamhankar PM et al.

Cureus, 2025

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