Associated Papers
EMILIN1 gene variant associated with polyneuropathy, language impairment, and motor dysfunction.
Palumbo F et al.
American Journal of Medical Genetics. Part A, 2024
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Distal motor neuropathy associated with novel EMILIN1 mutation.
Iacomino M et al.
Neurobiology of Disease, 2020
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Farwell Hagman KD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease.
Capuano A et al.
Human Mutation, 2016
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