Literature DB >> 25488928

Identification of deleterious synonymous variants in human genomes.

Orion J Buske, AshokKumar Manickaraj, Seema Mital, Peter N Ray, Michael Brudno.   

Abstract

Entities:  

Year:  2014        PMID： 25488928     DOI： 10.1093/bioinformatics/btu765

Source DB:  PubMed          Journal:  Bioinformatics        ISSN： 1367-4803            Impact factor:   6.937


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  2 in total

1.  Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation.

Authors:  Edward G Jones; Andrew P Landstrom
Journal:  J Vis Exp       Date:  2019-01-16       Impact factor: 1.355

Review 2.  PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

Authors:  Piero Pavone; Giovanni Corsello; Sung Yoon Cho; Xena Giada Pappalardo; Martino Ruggieri; Simona Domenica Marino; Dong Kyu Jin; Silvia Marino; Raffaele Falsaperla
Journal:  Ital J Pediatr       Date:  2019-12-04       Impact factor: 2.638
  2 in total

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