Peter Hulick to DNA Mutational Analysis
This is a "connection" page, showing publications Peter Hulick has written about DNA Mutational Analysis.
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Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms. Hum Mol Genet. 2016 06 01; 25(11):2256-2268.
Score: 0.031
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Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease. Hum Mutat. 2016 Jan; 37(1):84-97.
Score: 0.030
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Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1. Clin J Am Soc Nephrol. 2014 Mar; 9(3):527-35.
Score: 0.027
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Bernard-Soulier syndrome: common ancestry in two African American families with the GP Ib alpha Leu129Pro mutation. Am J Hematol. 2000 Oct; 65(2):141-8.
Score: 0.011