Varaico: Literature-Extracted Genetic Variants

Gene:PYCR2
Variant:p.G249V
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PYCR2

NM_013328.4:p.G249V

Associated Papers

Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10.

Manaspon C et al.

American Journal of Medical Genetics. Part A, 2021

Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2.

Escande-Beillard N et al.

Neuron, 2020

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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."