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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PYCR2

Variant:p.R46_K47Splc

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PYCR2

NM_013328.4:p.R46_K47Splc

hg38:chr1:225923700 C>A

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

34037307 (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."