Varaico: Literature-Extracted Genetic Variants

Gene:CFAP46
Variant:p.A433V
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CFAP46

NM_001200049.3:p.A433V

Associated Papers

Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.

Parra-Perez AM et al.

Medcomm, 2025

40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS5

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.

Wagner M et al.

Nature Communications, 2019

31636353 (PubMed )
Supplement: 41467_2019_12620_MOESM2_ESM.xlsx › Tabelle1
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