Varaico: Literature-Extracted Genetic Variants

Gene:SRSF1
Variant:p.V86M
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SRSF1

NM_006924.5:p.V86M

Associated Papers

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

Yardley J et al.

Investigative Ophthalmology & Visual Science, 2004

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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."