Varaico: Literature-Extracted Genetic Variants

Gene:RNASE1
Variant:p.C138W
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RNASE1

NM_002933.5:p.C138W

Associated Papers

Identification of new variants in MTRNR1 and MTRNR2 genes using whole mitochondrial genome sequencing in a Taiwanese family with MERRF (myoclonic epilepsy with ragged-red fibers) syndrome.

Wu YT et al.

Hearing Research, 2023

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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."