Varaico: Literature-Extracted Genetic Variants

Gene:MCAT
Variant:p.H313Y
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MCAT

NM_173467.5:p.H313Y

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

Monocarboxylate transporter 1 deficiency and ketone utilization.

van Hasselt PM et al.

The New England Journal of Medicine, 2014

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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."