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
Genetic and functional odorant receptor variation in the Homo lineage.
de March CA et al.
Iscience, 2023
36691623 (PubMed )
Supplement: mmc3.xlsx › Table_S8
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
Maguire SL et al.
The Journal of Pathology, 2016
27512948 (PubMed )
Supplement: PATH-240-315-s015.xlsx › Table_S2
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-00010-Table_S13.xlsx › Sheet1
The missense of smell: functional variability in the human odorant receptor repertoire.
Mainland JD et al.
Nature Neuroscience, 2014
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