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Volumn 35, Issue 4, 2014, Pages 505-510

Clinically Relevant Variants - Identifying, Collecting, Interpreting, and Disseminating: The 2013 Annual Scientific Meeting of the Human Genome Variation Society

Author keywords

Clinical diagnostics; Genetic disease; Genetic variation; HGVS; Meeting report; Next generation sequencing; NGS

Indexed keywords

ALLELE; ARTICLE; DIAGNOSTIC VALUE; DNA SEQUENCE; EXOME; GENE SEQUENCE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HUMAN; HUMAN GENOME; MEDICAL SOCIETY; PHENOTYPE; PRIORITY JOURNAL; TECHNOLOGY; GENETIC DATABASE; GENOMICS; PROCEDURES;

EID: 84896128512     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22516     Document Type: Article
Times cited : (12)

References (1)
  • 1
    • 79952764520 scopus 로고    scopus 로고
    • Performance of mutation pathogenicity prediction methods on missense variants
    • Thusberg J, Olatubosun A, Vihinen M. 2011. Performance of mutation pathogenicity prediction methods on missense variants. Hum Mutat 32:358-368.
    • (2011) Hum Mutat , vol.32 , pp. 358-368
    • Thusberg, J.1    Olatubosun, A.2    Vihinen, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.