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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GGPS1

Variant:p.I66L

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GGPS1

NM_004837.4:p.I66L

hg38:chr1:235342065 A>C

Associated Papers

GGPS1-associated muscular dystrophy with and without hearing loss.

Kaiyrzhanov R et al.

Annals of Clinical and Translational Neurology, 2022

35869884 (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."