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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MRPS7

Variant:p.R179H

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MRPS7

NM_015971.4:p.R179H

hg38:chr17:75265730 G>A

Associated Papers

Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency.

Kline BL et al.

Genes, 2022

36421788 (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."