Varaico: Literature-Extracted Genetic Variants

Gene:LIPT2
Variant:p.A71V
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LIPT2

NM_001144869.3:p.A71V

Associated Papers

LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.

Stowe RC et al.

American Journal of Medical Genetics. Part A, 2018

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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."