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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RMND1

Variant:p.N421_A425delFs

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RMND1

NM_017909.4:p.N421_A425delFs

hg38:chr6:151405761 GTGCCCTCTTCTCAT>G

Associated Papers

Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement.

Oziębło D et al.

Genes, 2020

32911714 (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."