Varaico: Literature-Extracted Genetic Variants

Gene:SCAPER
Variant:p.Q674_E675Splc
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SCAPER

NM_020843.4:p.Q674_E675Splc

Associated Papers

Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.

Tatour Y et al.

Journal of Medical Genetics, 2017

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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."