Varaico: Literature-Extracted Genetic Variants

Gene:RPL17
Variant:p.S17delFs
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RPL17

NM_001035006.5:p.S17delFs

Associated Papers

Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.

Weisschuh N et al.

Plos One, 2021

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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."