Associated Papers
Gene Variants Involved in Nonsense-Mediated mRNA Decay Suggest a Role in Autism Spectrum Disorder.
Marques AR et al.
Biomedicines, 2022
35327467 (PubMed )
Supplement: biomedicines-10-00665-s001.zip › Supplementary_tables.xlsx › Suppl_Table_S3
A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.
Bonnard C et al.
The Journal of Experimental Medicine, 2020
32845958 (PubMed )
Supplement: JEM_20191561_TableS1.xlsx › WES_All
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM6_ESM.xlsx › SD2_-_ExAC_Variants
Exome sequencing in families with chronic central serous chorioretinopathy.
Schellevis RL et al.
Molecular Genetics & Genomic Medicine, 2019
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A7-A0CG-01A.domain
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