Varaico: Literature-Extracted Genetic Variants

Gene:PLS3
Variant:p.L577insFs
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PLS3

NM_005032.7:p.L577insFs

Associated Papers

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

Mancini M et al.

Calcified Tissue International, 2024

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

A novel nonsense variant in PLS3 causes X-linked osteoporosis in a Chinese family.

Wang L et al.

Annals of Human Genetics, 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

NOVEL MUTATIONS IN THE WNT1, TMEM38B, P4HB, AND PLS3 GENES IN FOUR UNRELATED CHINESE FAMILIES WITH OSTEOGENESIS IMPERFECTA.

Cao YJ et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2019

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

30405713 (PubMed )
Supplement: 8953217.f1.zip › mat.8953217.v2__1_.docx

PLS3 Mutations in X-Linked Osteoporosis: Clinical and Bone Characteristics of Two Novel Mutations.

Kannu P et al.

Hormone Research in Paediatrics, 2017

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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."