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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RNF216

Variant:p.S620_C621insFs

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RNF216

NM_207111.4:p.S620_C621insFs

hg38:chr7:5712835 C>CAG

Associated Papers

A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome.

Durmaz Çelik N et al.

Bmc Medical Genomics, 2023

37161390 (PubMed )

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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."