Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL2
Variant:p.L332_D333Splc
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OSBPL2

NM_144498.4:p.L332_D333Splc

Associated Papers

A novel non-sense variant in GSDME causing exon skipping associated with DFNA5 in a large Chinese family.

Yang B et al.

Frontiers in Neurology, 2026

41725728 (PubMed )
Supplement: Table_1.xlsx › Variants_in_IV-4
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