Varaico: Literature-Extracted Genetic Variants

Gene:CFHR1
Variant:p.K301delFs
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CFHR1

NM_002113.3:p.K301delFs

Associated Papers

Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.

Taylor RL et al.

Ophthalmology, 2019

30905644 (PubMed )
Supplement: mmc7.pdf
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