Varaico: Literature-Extracted Genetic Variants

Gene:RPL13
Variant:p.S140_A141Splc
Back to variants list

RPL13

NM_000977.4:p.S140_A141Splc

Associated Papers

Pathogenic Gene Variants Identified in Patients Presenting With Perthes or Perthes-like Hip Disorder.

Marchelli G et al.

Journal of Pediatric Orthopedics, 2024

Expanding the phenotypic spectrum of RPL13-related skeletal dysplasia.

Reinsch B et al.

American Journal of Medical Genetics. Part A, 2021

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."