Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM4_ESM.xlsx › Sheet1
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
Patel N et al.
Human Genetics, 2017
A novel p.G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities.
Liu Q et al.
Current Eye Research, 2014
Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations.
Aldahmesh MA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011
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