Literature DB >> 29858586

Inflated pathogenic variant profiles in the ClinVar database.

Rodrigo A Toledo1.   

Abstract

Mesh：

Year:  2018        PMID： 29858586     DOI： 10.1038/s41574-018-0034-0

Source DB:  PubMed          Journal:  Nat Rev Endocrinol        ISSN： 1759-5029            Impact factor:   43.330


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  2 in total

1.  Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets.

Authors:  Perry Evans; Chao Wu; Amanda Lindy; Dianalee A McKnight; Matthew Lebo; Mahdi Sarmady; Ahmad N Abou Tayoun
Journal:  Genome Res       Date:  2019-06-24       Impact factor: 9.043

2.  A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Authors:  Lorena Magraner-Pardo; Roman A Laskowski; Tirso Pons; Janet M Thornton
Journal:  Sci Rep       Date:  2021-07-12       Impact factor: 4.379
  2 in total

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