Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A1
Variant:p.I249_N250delFs
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SLC16A1

NM_003051.4:p.I249_N250delFs

Associated Papers

Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature.

Stanescu S et al.

Orphanet Journal of Rare Diseases, 2022

Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.

Bravo-Alonso I et al.

Journal of Clinical Medicine, 2019

Monocarboxylate transporter 1 deficiency and ketone utilization.

van Hasselt PM et al.

The New England Journal of Medicine, 2014

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