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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PYCR2

Variant:p.V128A

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PYCR2

NM_013328.4:p.V128A

hg38:chr1:225922015 A>G

Associated Papers

Pyrroline-5-carboxylate reductase 2 (PYCR2) deficiency causes hereditary spastic paraplaegia in late childhood.

Sager G et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2023

37141741 (PubMed )

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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."