Varaico: Literature-Extracted Genetic Variants

Gene:MYRF
Variant:p.S294_Q300delFs
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MYRF

NM_001127392.3:p.S294_Q300delFs

Associated Papers

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.

Garnai SJ et al.

Plos Genetics, 2019

31048900 (PubMed )
Supplement: pgen.1008130.s014.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."