From the periphery to centre stage: De novo single nucleotide variants play a key role in human genetic disease

Journal of Medical Genetics

Volumn 50, Issue 4, 2013, Pages 203-211

  Ku, Chee Seng ^a   Tan, Eng King ^b,c   Cooper, David N ^d  

^a KAROLINSKA INSTITUTE   (Sweden)

^b NATIONAL NEUROSCIENCE INSTITUTE   (Singapore)

^c DUKE NUS MEDICAL SCHOOL   (Singapore)

^d CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL NAV1.2;

ALLELE; AMINO ACID SUBSTITUTION; AUTISM; COPY NUMBER VARIATION; DNA SEQUENCE; GENE DELETION; GENE INSERTION; GENE SEQUENCE; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HUMAN; INTELLECTUAL IMPAIRMENT; KABUKI MAKEUP SYNDROME; LANGUAGE DISABILITY; MEIOSIS; MISSENSE MUTATION; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; REVIEW; SCHIZOPHRENIA; SINGLE NUCLEOTIDE VARIANT; SOTOS SYNDROME; SPEECH DISORDER; WHOLE EXOME SEQUENCING;

AUTISTIC DISORDER; DNA COPY NUMBER VARIATIONS; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; GERM-LINE MUTATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTELLECTUAL DISABILITY; MEIOSIS; SCHIZOPHRENIA;

EID: 84878887663     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101519     Document Type: Review

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