Varaico: Literature-Extracted Genetic Variants

Gene:PLS3
Variant:p.F369insFs
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PLS3

NM_005032.7:p.F369insFs

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

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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."