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BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa
Zeinab Fadaie
, Laura Whelan
, Adrian Dockery
, Catherina H Z Li
,
L Ingeborgh van der Born
, Carel B Hoyng
, Christian Gilissen
, Jordi Corominas
, Charlie Rowlands
, Roly Megaw
, Anne K Lampe
, Frans P M Cremers
, Gwyneth Jane Farrar
, Jamie M Ellingford
, Paul F Kenna
, Susanne Roosing
Medical retina and Uveitis
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Keyphrases
Non-syndromic Retinitis pigmentosa
100%
Bardet-Biedl Syndrome
100%
Branch Point
100%
Functional Analysis
37%
Splicing Defect
25%
Proband
25%
Exon 8
25%
Inherited Retinal Disease
25%
Missense Variants
25%
Pathogenicity
25%
Clinical Assessment
12%
In-frame Deletion
12%
Exon 7
12%
Skipping
12%
Compound Heterozygous mutation
12%
Pathogenic Variants
12%
Macular
12%
Autosomal Dominant Retinitis pigmentosa
12%
Nonsyndromic
12%
Monoallelic
12%
Segregation Analysis
12%
Non-coding Region
12%
Gene Panel Analysis
12%
Ocular Features
12%
Whole Genome Sequencing
12%
Syndromic
12%
Molecular Diagnostics
12%
Variant Prioritization
12%
Variation Analysis
12%
Unrelated Individuals
12%
Biochemistry, Genetics and Molecular Biology
Retinitis pigmentosa
100%
Exon
60%
Proband
40%
Missense
40%
Splicing Defect
20%
Autosomal Recessive Inheritance
20%
Whole Genome Sequencing
20%
Coding Region
20%