JAMES LUPSKI to Uniparental Disomy
This is a "connection" page, showing publications JAMES LUPSKI has written about Uniparental Disomy.
Connection Strength
0.617
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Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. Hum Genet. 2007 May; 121(3-4):433-9.
Score: 0.282
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Novel parent-of-origin-specific differentially methylated loci on chromosome 16. Clin Epigenetics. 2019 04 08; 11(1):60.
Score: 0.164
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Absence of heterozygosity due to template switching during replicative rearrangements. Am J Hum Genet. 2015 Apr 02; 96(4):555-64.
Score: 0.124
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Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency. Blood. 2021 01 28; 137(4):493-499.
Score: 0.047