Varaico: Literature-Extracted Genetic Variants

Gene:REG3A
Variant:p.E27*
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REG3A

NM_002580.3:p.E27*

Associated Papers

Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.

Waseem NH et al.

Investigative Ophthalmology & Visual Science, 2007

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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."