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Predisposition to atrioventricular septal defects may be caused by SOX7 variants that impair interaction with GATA4
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Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
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已完结
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
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Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
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De novo variants in neurodevelopmental disorders—experiences from a tertiary care center
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Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
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Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory
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Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases
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Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes
8天前
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Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project
10天前
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