Keyphrases
Alu Insertion
100%
Ullrich Congenital muscular Dystrophy
100%
Mowat-Wilson Syndrome
100%
Missense Variants
100%
Intellectual Disability
100%
Autism Spectrum Disorder
100%
Splice Variant
100%
COL6A1
100%
Seizure
100%
ZEB2 Gene
100%
CUX2
100%
Collagen VI
75%
Genome Sequencing
50%
Deep Phenotyping
50%
Pathogenic Variants
50%
Extracellular Matrix
50%
Collagen VI Related muscular Dystrophy
25%
Mobile Element Insertion
25%
Hyperlaxity
25%
Uncertain Significance
25%
Rare Neurodevelopmental Disorder
25%
Muscle Tissue
25%
Genetic Causes
25%
Noninvasive Ventilation
25%
Monogenic
25%
Wheelchair
25%
Immunocytochemistry
25%
Aberrant Splicing
25%
Loss Function
25%
Homozygosity
25%
Proximal Weakness
25%
Premature Stop Codon
25%
Joint Contracture
25%
Manual Inspection
25%
ZEB2
25%
Muscle Impairment
25%
Pathogenicity
25%
Frameshift
25%
Genetic Disease
25%
Patient-derived
25%
Impaired Secretion
25%
Human Diversity
25%
Haploinsufficiency
25%
Exon 8
25%
RNA Analysis
25%
Alu Elements
25%
COL6A3
25%
COL6A2
25%
Multiple Tissues
25%
Short Interspersed nuclear Elements
25%
Biochemistry, Genetics and Molecular Biology
ZEB2
100%
Collagen VI
100%
Missense
100%
Intellectual Disability
100%
Genome Sequencing
66%
Phenotype
66%
Candidate Gene
33%
Insertion Sequence
33%
Alu Element
33%
Genetics
33%
Genetic Disorder
33%
Exon
33%
Next Generation Sequencing
33%
Stop Codon
33%
Haploinsufficiency
33%
Immunocytochemistry
25%
RNA
25%
Fibroblast
25%
Homozygosity
25%
COL6A2
25%
Secretion (Process)
25%
COL6A3
25%
Exome Sequencing
20%
Transcription Factors
20%
Brain Function
20%
Medicine and Dentistry
Muscular Dystrophy
100%
Extracellular Matrix
50%
Immunocytochemistry
25%
Muscle Tissue
25%
Dystrophy
25%
Joint Contracture
25%
Secretion (Process)
25%
Pathogenicity
25%
Skin Fibroblast
25%
Myopathy
25%
Noninvasive Ventilation
25%
Homozygosity
25%
RNA Analysis
25%
Weakness
25%