Varaico: Literature-Extracted Genetic Variants

Gene:HMX1
Variant:p.R34S
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HMX1

NM_018942.3:p.R34S

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: mmc6.pdf
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