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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYTIP

Variant:p.Y144delFs

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CYTIP

NM_004288.5:p.Y144delFs

hg38:chr2:157430601 TTG>T

Associated Papers

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations.

Pitt JJ et al.

Journal of Inherited Metabolic Disease, 2015

25511235 (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."