Varaico: Literature-Extracted Genetic Variants

Gene:PPTC7
Variant:p.V197I
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PPTC7

NM_139283.2:p.V197I

Associated Papers

Recessive PPTC7 deficiency triggers excessive mitophagy to cause a severe inborn error of metabolism with hypomyelinating leukodystrophy.

Kozul KL et al.

Research Square, 2026

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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."