Varaico: Literature-Extracted Genetic Variants

Gene:PRKG2
Variant:p.R545Splc
Back to variants list

PRKG2

NM_006259.3:p.R545Splc

Associated Papers

Case Report: Dual pathogenic mechanism of a PRKG2 missense variant underlies an attenuated phenotype of acromesomelic dysplasia.

Akimova D et al.

Frontiers in Genetics, 2025

Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2.

Mollaoğlu E et al.

Clinical Genetics, 2023

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."