Varaico: Literature-Extracted Genetic Variants

Gene:WNT1
Variant:p.E204*
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WNT1

NM_005430.4:p.E204*

Associated Papers

Genotypic and Phenotypic Spectrum and Pathogenesis of WNT1 Variants in a Large Cohort of Patients With OI/Osteoporosis.

Hu J et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

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

Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre.

Rouleau C et al.

Bone Reports, 2022

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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."