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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CRYZ

Variant:p.Y115H

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CRYZ

NM_001889.4:p.Y115H

hg38:chr1:74719294 A>G

Associated Papers

NDUFS6 related Leigh syndrome: a case report and review of the literature.

Rouzier C et al.

Journal of Human Genetics, 2019

30948790 (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."