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The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals
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Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : application of a points-based ACMG/AMP approach
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Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
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Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : further insights into the phenotypic spectrum and pathogenic mechanisms
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Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
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New variants and in silico analyses in GRK1 associated Oguchi disease
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Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome
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More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome
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Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility
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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423 : genotype-phenotype study in neurofibromatosis type 1