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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HTT

Variant:p.S519G

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HTT

NM_001388492.1:p.S519G

hg38:chr4:3127416 A>G

Associated Papers

Genetic basis of mitochondrial diseases.

Gusic M et al.

Febs Letters, 2021

33655490 (PubMed )

Genetics and molecular pathogenesis of mitochondrial respiratory chain diseases.

Hanna MG et al.

Cellular and Molecular Life Sciences : Cmls, 1999

10379358 (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."