Varaico: Literature-Extracted Genetic Variants

Gene:PLOD2
Variant:p.G661D
Back to variants list

PLOD2

NM_182943.3:p.G661D

Associated Papers

Case Report: Exome Sequencing Identified a Novel Compound Heterozygous Variation in PLOD2 Causing Bruck Syndrome Type 2.

Zhang J et al.

Frontiers in Genetics, 2021

Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation.

Mumm S et al.

Bone, 2020

Novel Mutations in PLOD2 Cause Rare Bruck Syndrome.

Lv F et al.

Calcified Tissue International, 2018

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."