Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.L166*
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TAFAZZIN

NM_000116.5:p.L166*

Associated Papers

The B-lymphoblastoid model in Barth syndrome.

Chan JZ et al.

Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2025

Pathogenic variants that alter protein code often disrupt splicing.

Soemedi R et al.

Nature Genetics, 2017

28416821 (PubMed )
Supplement: NIHMS861030-supplement-4.pdf
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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."