Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene. [electronic resource]
Producer: 20201119Description: 103735 p. digitalISSN:- 1878-0849
- Adolescent
- Child
- Codon, Nonsense
- Epilepsy -- genetics
- Female
- Frameshift Mutation
- Genetic Association Studies
- Genotype
- Guanine Nucleotide Exchange Factors -- genetics
- Heredity
- Heterozygote
- Humans
- Intellectual Disability -- diagnostic imaging
- Male
- Mosaicism
- Muscle Hypotonia -- genetics
- Mutation, Missense
- Pedigree
- Phenotype
- Speech-Language Pathology
- Exome Sequencing
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Publication Type: Case Reports; Journal Article
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