Varaico: Literature-Extracted Genetic Variants

Gene:PTPMT1
Variant:p.Y22S
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PTPMT1

NM_175732.3:p.Y22S

Associated Papers

A review of disorders of cardiolipin metabolism: Pathophysiology, clinical presentation and future directions.

Carney OS et al.

Molecular Genetics and Metabolism, 2025

Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

Falabella M et al.

Brain : a Journal of Neurology, 2025

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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."