Results 241 to 250 of about 1,791,159 (252)

Sequencing of candidate genes in Dominican families implicates both rare exonic and common non-exonic variants for carotid intima-media thickness at bifurcation

Human Genetics, 2015
Liyong Wang, Nicole Dueker, Susan Blanton   +2 more
exaly  

Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease

RNA Biology, 2015
Elena Ramos-Trujillo, Felix Claverie-Martin   +1 more
exaly  

Trajectory of exonic variant discovery in a large clinical population: implications for variant curation

Genetics in Medicine, 2019
David J Carey, Michael F Murray, Tooraj Mirshahi   +2 more
exaly  

Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases

Trends in Biochemical Sciences, 2000
Benjamin J. Blencowe
exaly  

The first case of Al-Raqad syndrome in Japan is associated with a homozygous DCPS exonic variant resulting in aberrant splicing

Brain and Development
Yuta Inoki
exaly  

Novel Biallelic Synonymous Exonic Variant in VPS13A Affecting mRNA SplicingCase Report

Neurology: Genetics
Kevin Peikert, Zhiyong Chen, Shermyn Neo
exaly  

Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing

Genetics in Medicine, 2015
Lee-Jun C Wong, Víctor Wei Zhang, Yanming Feng   +2 more
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Frontiers in Genetics
Ruixiao Zhang, Wencong Guo, Xiaomeng Shi
exaly  

A novel exonic variant (221delT) in the gene encoding placental protein 13 (PP13) is associated with preterm labour in a low risk population

Journal of Reproductive Immunology, 2009
exaly  

The LRRK2 G2385R Exonic Variant: A Potential Genetic Disease Modifier of Multiple System Atrophy?

Movement Disorders
Margherita Fabbri, Henry Houlden, Viorica Chelban   +2 more
exaly