Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A3
Variant:p.L199W
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SLC25A3

NM_002635.4:p.L199W

Associated Papers

Expanding the Clinical Spectrum of Mitochondrial Phosphate Carrier Deficiency: A Case Report With Literature Review.

Selamioglu A et al.

American Journal of Medical Genetics. Part A, 2026

Mitochondrial phosphate-carrier deficiency mimicking infantile-onset Pompe disease.

Küçükcongar Yavaş A et al.

American Journal of Medical Genetics. Part A, 2024

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.

Palmieri F et al.

Biomolecules, 2020

Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis.

Bhoj EJ et al.

Jimd Reports, 2015

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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."