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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TAFAZZIN

Variant:p.G80Splc

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TAFAZZIN

NM_000116.5:p.G80Splc

hg38:chrX:154412216 T>C

Associated Papers

Blended Phenotypes in Individuals With Rare Diseases: A Brazilian Case Series.

Piai CB et al.

American Journal of Medical Genetics. Part A, 2025

40762225 (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."