Varaico: Literature-Extracted Genetic Variants

Gene:PNMA3
Variant:p.R384W
Back to variants list

PNMA3

NM_013364.6:p.R384W

Associated Papers

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M et al.

Molecular Genetics and Genomics : Mgg, 2023

36454308 (PubMed )
Supplement: 438_2022_1980_MOESM8_ESM.xlsx › Deleterious_variants

Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.

Bujakowska KM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27735924 (PubMed )
Supplement: NIHMS819557-supplement-Supplementary___Appendix__online_only_material__etc__.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."