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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PHYH

Variant:p.G23fs

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PHYH

NM_006214.4:p.G23fs

hg38:chr10:13299976 CCC>N

Associated Papers

Improved electroretinographic responses following dietary intervention in a patient with Refsum disease.

Benson MD et al.

Jimd Reports, 2020

32904930 (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."