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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LIPT2

Variant:p.V116L

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LIPT2

NM_001144869.3:p.V116L

hg38:chr11:74493358 C>A

Associated Papers

Biallelic Variants in LIPT2 as a Cause of Infantile-Onset Dystonia: Expanding the Clinical and Molecular Spectrum.

Sen K et al.

Pediatric Neurology, 2025

39536593 (PubMed )

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