Varaico: Literature-Extracted Genetic Variants

Gene:WNT1
Variant:p.T124M
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WNT1

NM_005430.4:p.T124M

Associated Papers

Multi-omics analyses reveal aberrant differentiation trajectory with WNT1 loss-of-function in type XV osteogenesis imperfecta.

Tan Z et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024

Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients.

Chen P et al.

Orphanet Journal of Rare Diseases, 2023

37730650 (PubMed )
Supplement: 13023_2023_2906_MOESM2_ESM.xlsx › Sheet1

Mutational Screening of Skeletal Genes in 14 Chinese Children with Osteogenesis Imperfecta Using Targeted Sequencing.

Tan W et al.

Journal of Immunology Research, 2022

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

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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."