Robert Hufnagel to Loss of Function Mutation
This is a "connection" page, showing publications Robert Hufnagel has written about Loss of Function Mutation.
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Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium leading to nanophthalmos. JCI Insight. 2026 Mar 23; 11(6).
Score: 0.060
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Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies. JAMA Ophthalmol. 2024 Nov 01; 142(11):1081-1086.
Score: 0.055