Varaico: Literature-Extracted Genetic Variants

Gene:WNT1
Variant:p.E343fs
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WNT1

NM_005430.4:p.E343fs

Associated Papers

Use of Teriparatide, Denosumab, and Romosozumab in a Postpartum Monogenic Osteoporosis With a WNT1 Pathogenic Variation.

Cavalcanti Matos T et al.

Jcem Case Reports, 2025

Osteoporosis related to WNT1 variants: a not infrequent cause of osteoporosis.

Peris P 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, 2023

Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the WNT1 gene.

Campopiano MC et al.

Frontiers in Endocrinology, 2022

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.

Caparros-Martin JA et al.

Molecular Genetics & Genomic Medicine, 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."