Associated Papers
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism
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-A2-A0CT-01A.domain
LY96, UPKIB mutations and TLR4, CD14, MBL polymorphisms in children with urinary tract infection.
Ertan P et al.
Indian Journal of Pediatrics, 2011
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