Varaico: Literature-Extracted Genetic Variants

Gene:PLVAP
Variant:p.R296C
Back to variants list

PLVAP

NM_031310.3:p.R296C

Associated Papers

A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.

Seaby EG et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Middle_priority

Whole-exome sequencing of epithelial ovarian carcinomas differing in resistance to platinum therapy.

Hlaváč V et al.

Life Science Alliance, 2022

36229065 (PubMed )
Supplement: LSA-2022-01551_TableS16.xlsx › Table_S16
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."