Varaico: Literature-Extracted Genetic Variants

Gene:WNT1
Variant:p.V229fs
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WNT1

NM_005430.4:p.V229fs

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

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

Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta.

Nampoothiri S et al.

American Journal of Medical Genetics. Part A, 2019

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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."