TY  - GEN
AU  - Wooderchak-Donahue,Whitney L
AU  - McDonald,Jamie
AU  - Farrell,Andrew
AU  - Akay,Gulsen
AU  - Velinder,Matt
AU  - Johnson,Peter
AU  - VanSant-Webb,Chad
AU  - Margraf,Rebecca
AU  - Briggs,Eric
AU  - Whitehead,Kevin J
AU  - Thomson,Jennifer
AU  - Lin,Angela E
AU  - Pyeritz,Reed E
AU  - Marth,Gabor
AU  - Bayrak-Toydemir,Pinar
TI  - Genome sequencing reveals a deep intronic splicing 
SN  - 1468-6244
PY  - 2019///1114
KW  - Activin Receptors, Type II
KW  - genetics
KW  - Base Sequence
KW  - Case-Control Studies
KW  - Chromosome Mapping
KW  - Computational Biology
KW  - methods
KW  - Female
KW  - Genetic Association Studies
KW  - Genetic Predisposition to Disease
KW  - Genomics
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Introns
KW  - Male
KW  - Multigene Family
KW  - Mutation
KW  - Pedigree
KW  - RNA Splicing
KW  - RNA, Untranslated
KW  - Sequence Analysis, DNA
KW  - Telangiectasia, Hereditary Hemorrhagic
KW  - diagnosis
KW  - Translocation, Genetic
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmedgenet-2018-105561
ER  -