Varaico: Literature-Extracted Genetic Variants

Gene:PLS3
Variant:p.D332delFs
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PLS3

NM_005032.7:p.D332delFs

Associated Papers

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

Costa A et al.

Calcified Tissue International, 2024

X-linked osteogenesis imperfecta accompanied by patent ductus arteriosus: a case with a novel splice variant in PLS3.

Qiu C et al.

World Journal of Pediatrics : Wjp, 2022

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

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

A novel large fragment deletion in PLS3 causes rare X-linked early-onset osteoporosis and response to zoledronic acid.

Lv F et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2017

Osteoporosis caused by mutations in PLS3: clinical and bone tissue characteristics.

Fahiminiya S et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2014

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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."