Varaico: Literature-Extracted Genetic Variants

Gene:WNT1
Variant:p.E123D
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WNT1

NM_005430.4:p.E123D

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

The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report.

Kuptanon C et al.

Bmc Medical Genetics, 2018

Novel missense loss-of-function mutations of WNT1 in an autosomal recessive Osteogenesis imperfecta patient.

Won JY et al.

European Journal of Medical Genetics, 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."