Varaico: Literature-Extracted Genetic Variants

Gene:PYCR2
Variant:p.R190*
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PYCR2

NM_001271681.2:p.R190*

Associated Papers

Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.

Lan X et al.

Jama Network Open, 2025

40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1

Mutation in PYCR2 gene and hypomyelinating leukodystrophy in children: a case report study.

Hosseini SA et al.

Annals of Medicine and Surgery (2012), 2023

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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."