Varaico: Literature-Extracted Genetic Variants

Gene:CLPP
Variant:p.L58R
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CLPP

NM_006012.4:p.L58R

Associated Papers

New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.

Faridi R et al.

Human Genetics, 2022

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.

Brownstein Z et al.

Clinical Genetics, 2020

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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."