Varaico: Literature-Extracted Genetic Variants

Gene:NXNL1
Variant:p.R28P
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NXNL1

NM_138454.2:p.R28P

Associated Papers

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers.

Shankar SP et al.

Investigative Ophthalmology & Visual Science, 2016

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