Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.W548*
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PDE6C

NM_006204.4:p.W548*

Associated Papers

Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia.

Nouri Z et al.

Bmc Medical Genomics, 2024

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