CNRGH
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Genetic variants related to longer telomere length are associated with increased risk of Renal Cell Carcinoma.
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A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype.
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Novel landscape of HLA-G isoforms expressed in clear cell renal cell carcinoma patients.
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Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
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Association of impaired renal function with venous thrombosis: A genetic risk score approach.
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Recessive myopalladin mutations cause congenital cap myopathy with unusual rods.
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Novel recessive splice site mutation in POPDC1 (BVES) is associated with first-degree atrioventricular block and muscular dystrophy.
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Homozygous truncating variants in TBC1D23 cause Pontocerebellar Hypoplasia and alter cortical development.
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