Varaico: Literature-Extracted Genetic Variants

Gene:PLS3
Variant:p.T578fs
Back to variants list

PLS3

NM_005032.7:p.T578fs

Associated Papers

Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene.

Mancini M et al.

Calcified Tissue International, 2024

Identification of a novel splicing mutation and genotype-phenotype correlations in rare PLS3-related childhood-onset osteoporosis.

Wu Z et al.

Orphanet Journal of Rare Diseases, 2022

35752817 (PubMed )
Supplement: 13023_2022_2380_MOESM1_ESM.docx

A novel frameshift deletion in PLS3 causing severe primary osteoporosis.

Costantini A et al.

Journal of Human Genetics, 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."