Varaico: Literature-Extracted Genetic Variants

Gene:PLS3
Variant:p.E249*
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PLS3

NM_005032.7:p.E249*

Associated Papers

PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic Features in Five New Families.

Costa A 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 mutation in PLS3 causes extremely rare X-linked osteogenesis imperfecta.

Hu J et al.

Molecular Genetics & Genomic Medicine, 2020

Plastin 3 in X-Linked Osteoporosis: Imbalance of Ca2+-Dependent Regulation Is Equivalent to Protein Loss.

Schwebach CL et al.

Frontiers in Cell and Developmental Biology, 2020

Clinical, Genetics, and Bioinformatic Characterization of Mutations Affecting an Essential Region of PLS3 in Patients with BMND18.

Chen T et al.

International Journal of Endocrinology, 2018

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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."