Varaico: Literature-Extracted Genetic Variants

Gene:RAB11FIP1
Variant:p.P64delFs
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RAB11FIP1

NM_001002814.3:p.P64delFs

Associated Papers

Case Report: A Novel Homozygous Mutation in MYF5 Due to Paternal Uniparental Isodisomy of Chromosome 12 in a Case of External Ophthalmoplegia With Rib and Vertebral Anomalies.

Li Q et al.

Frontiers in Genetics, 2021

35186005 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Materials › Supplementary_Tables_and_Figures-2021-12-13.docx
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