Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.E446*
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PDE6C

NM_006204.4:p.E446*

Associated Papers

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.

Malhotra A et al.

Hgg Advances, 2025

40195116 (PubMed )
Supplement: mmc1.xlsx › Multiple_molecular_diagnoses
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