Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A3
Variant:p.P17R
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SLC25A3

NM_002635.4:p.P17R

Associated Papers

A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNAPro.

Ghirigato E et al.

Neuromuscular Disorders : Nmd, 2023

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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."