TY  - GEN
AU  - Rehman,Atteeq U
AU  - Santos-Cortez,Regie Lyn P
AU  - Morell,Robert J
AU  - Drummond,Meghan C
AU  - Ito,Taku
AU  - Lee,Kwanghyuk
AU  - Khan,Asma A
AU  - Basra,Muhammad Asim R
AU  - Wasif,Naveed
AU  - Ayub,Muhammad
AU  - Ali,Rana A
AU  - Raza,Syed I
AU  - Nickerson,Deborah A
AU  - Shendure,Jay
AU  - Bamshad,Michael
AU  - Riazuddin,Saima
AU  - Billington,Neil
AU  - Khan,Shaheen N
AU  - Friedman,Penelope L
AU  - Griffith,Andrew J
AU  - Ahmad,Wasim
AU  - Riazuddin,Sheikh
AU  - Leal,Suzanne M
AU  - Friedman,Thomas B
TI  - Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86
SN  - 1537-6605
PY  - 2014///0224
KW  - Alleles
KW  - Amino Acid Sequence
KW  - Carrier Proteins
KW  - genetics
KW  - Chromosomes, Human, Pair 16
KW  - Consanguinity
KW  - Deafness
KW  - Epilepsy
KW  - Exome
KW  - Exons
KW  - Female
KW  - GTPase-Activating Proteins
KW  - Genes, Recessive
KW  - Genetic Loci
KW  - Genome-Wide Association Study
KW  - Heterozygote
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Membrane Proteins
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Nerve Tissue Proteins
KW  - Pakistan
KW  - Pedigree
KW  - Phenotype
KW  - Polymorphism, Single Nucleotide
KW  - RNA, Messenger
KW  - Sequence Analysis, DNA
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2013.12.004
ER  -