Varaico: Literature-Extracted Genetic Variants

Gene:PYCR1
Variant:p.G192V
Back to variants list

PYCR1

NM_006907.4:p.G192V

Associated Papers

Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.

Jiang M et al.

Frontiers in Genetics, 2025

40567897 (PubMed )
Supplement: Supplementaryfile1.xls › Sheet1

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Huang Y et al.

Frontiers in Genetics, 2023

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

Dimopoulou A et al.

Molecular Genetics and Metabolism, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."