Associated Papers
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
36823319 (PubMed )
Supplement: EMS163741-supplement-Supplementary_Data_3.xlsx › ClinVar_evidence
The role of WNT1 mutant variant (WNT1c.677C>T ) in osteogenesis imperfecta.
Zhang B et al.
Annals of Human Genetics, 2020
Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta.
Li S et al.
Frontiers in Genetics, 2020
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
Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3.
Umair M et al.
Pediatric Research, 2017
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
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