Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.K237fs
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OFD1

NM_003611.3:p.K237fs

Associated Papers

Distinct genomic subgroups and mutational patterns in undifferentiated/dedifferentiated endometrial carcinoma.

Huang CY et al.

Bmc Cancer, 2025

41068688 (PubMed )
Supplement: 12885_2025_15053_MOESM2_ESM.xlsx › Table.S4

Highly efficient capture approach for the identification of diverse inherited retinal disorders.

Kao HJ et al.

Npj Genomic Medicine, 2024

38195571 (PubMed )
Supplement: 41525_2023_388_MOESM4_ESM.xlsx › Solved_cases

Joubert syndrome: genotyping a Northern European patient cohort.

Kroes HY et al.

European Journal of Human Genetics : Ejhg, 2016

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