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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ISL1

Variant:p.C45_A46Fs

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ISL1

NM_002202.3:p.C45_A46Fs

hg38:chr5:51384646 GTG>CC

Associated Papers

Barth Syndrome: TAFAZZIN Gene, Cardiologic Aspects, and Mitochondrial Studies-A Comprehensive Narrative Review.

Sergi CM

Genes, 2025

40282425 (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."