Associated Papers
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
van Woerden GM et al.
Human Mutation, 2022
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.
Morlino S et al.
European Journal of Human Genetics : Ejhg, 2018
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Wade EM et al.
American Journal of Medical Genetics. Part A, 2017
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
Wade EM et al.
American Journal of Human Genetics, 2016
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