Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.R488Q
Back to variants list

POMGNT1

NM_017739.4:p.R488Q

Associated Papers

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.

Kaseniit KE et al.

Clinical Genetics, 2019

31170325 (PubMed )
Supplement: CGE-96-236-s003.pdf
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."