Varaico: Literature-Extracted Genetic Variants

Gene:WNT1
Variant:p.S317fs
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WNT1

NM_005430.4:p.S317fs

Associated Papers

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

Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation.

Ang K et al.

Bone Reports, 2018

Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations.

Liu Y et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016

Skeletal characteristics associated with homozygous and heterozygous WNT1 mutations.

Palomo T et al.

Bone, 2014

Mutations in WNT1 are a cause of osteogenesis imperfecta.

Fahiminiya S et al.

Journal of Medical Genetics, 2013

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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."