Associated Papers
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter
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__
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-0007-Table_S10.xlsx › Sheet1
Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.
Ho JE et al.
The Journal of Clinical Investigation, 2013
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