Steven Keiles to Genetic Variation
This is a "connection" page, showing publications Steven Keiles has written about Genetic Variation.
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A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders. Hum Mutat. 2016 Jan; 37(1):127-34.
Score: 0.116
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Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis. Pancreas. 2006 Oct; 33(3):221-7.
Score: 0.062
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Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. Hum Mutat. 2015 Dec; 36(12):1113-27.
Score: 0.029
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Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. Genet Med. 2014 Nov; 16(11):830-7.
Score: 0.026
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Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk. Gut. 2013 Nov; 62(11):1616-24.
Score: 0.023
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Improved detection of cystic fibrosis mutations in infertility patients with DNA sequence analysis. Hum Reprod. 2004 Mar; 19(3):540-6.
Score: 0.013