Revisiting the morbid genome of Mendelian disorders

Genome Biology

Volumn 17, Issue 1, 2016, Pages

  Abouelhoda, Mohamed ^a,b   Faquih, Tariq ^a,b   El Kalioby, Mohamed ^a,b   Alkuraya, Fowzan S ^a,b,c  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING ABDULAZIZ CITY FOR SCIENCE AND TECHNOLOGY   (Saudi Arabia)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

Autozygosity; Disease mutations; Saudi Human Genome Program (SHGP); Variant classification

Indexed keywords

ARTICLE; CONTROLLED STUDY; DISEASE ACTIVITY; FANCONI ANEMIA; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC DATABASE; GENETIC DISORDER; GENETIC VARIABILITY; GENOME; GENOME ANALYSIS; HOMOZYGOSITY; HUMAN; MENDELIAN DISORDER; MOLECULAR PATHOLOGY; MORBID GENOME; PHENOTYPE; TUMOR SUPPRESSOR GENE; ALLELE; CONSANGUINITY; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; HOMOZYGOTE; HUMAN GENOME; MOLECULAR GENETICS; MUTATION; SAUDI ARABIA;

BRCA1 PROTEIN; BRCA2 PROTEIN;

ALLELES; BRCA1 PROTEIN; BRCA2 PROTEIN; CONSANGUINITY; DATABASES, GENETIC; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOME, HUMAN; HOMOZYGOTE; HUMANS; MOLECULAR SEQUENCE ANNOTATION; MUTATION; SAUDI ARABIA;

EID: 84997386084     PISSN: 14747596     EISSN: 1474760X     Source Type: Journal    
DOI: 10.1186/s13059-016-1102-1     Document Type: Article

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