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CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online
UploadThe clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
Download from academic.oup.comBiallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension
UploadConserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes
Download from academic.oup.comGenomic basis for skin phenotype and cold adaptation in the extinct Steller’s sea cow
Download from doi.orgRefining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders
Download from doi.orgIn cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas
Download from www.nature.comPathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size
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