Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.Y272N
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OCRL

NM_000276.4:p.Y272N

Associated Papers

Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease.

Mura-Escorche G et al.

Biomedicines, 2023

38002082 (PubMed )
Supplement: biomedicines-11-03082-s001.zip › biomedicines-2665667-supplementary.pdf
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