Keyphrases
Autosomal Recessive Bestrophinopathy
87%
Bestrophin-1
100%
Cause of Disease
12%
China
12%
Chinese Cohort
100%
Chinese Patients
12%
De-novo mutations
12%
Ethnic Chinese
25%
Exon 2
12%
Exon 5
12%
Exon 6
12%
Exon 7
12%
Exon 8
12%
Family Members
12%
Frameshift
12%
Genetic Counseling
12%
Hot Region
12%
Juvenile Macular Dystrophy
75%
Large Cohort
12%
Missense
25%
Multigene Panel Testing
12%
Mutation Spectrum
100%
Novel Variants
12%
Ocular Phenotype
12%
Penetrance
12%
Population Data
12%
Sanger Sequencing
12%
Well-founded
12%
Medicine and Dentistry
Autosomal Recessive Inheritance
87%
Bestrophin 1
100%
Diseases
12%
Exon
25%
Genetic Counseling
12%
Penetrance
12%
Sanger Sequencing
12%
Biochemistry, Genetics and Molecular Biology