Associated Papers
Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis-van Creveld syndrome.
Zhuang J et al.
Molecular Genetics & Genomic Medicine, 2023
Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.
Nagaoka S et al.
Human Genome Variation, 2021
Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias.
Lv S et al.
Frontiers in Cell and Developmental Biology, 2021
34557487 (PubMed )
Supplement: Table_1.XLSX › table_S1
Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean Grey cattle.
Murgiano L et al.
Plos One, 2014
Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome.
Zhang Z et al.
Gene, 2012
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