Varaico: Literature-Extracted Genetic Variants

Gene:SAXO4
Variant:p.G52S
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SAXO4

NM_145017.3:p.G52S

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.s012.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."