Associated Papers
RNA sequencing reveals a complete picture of a homozygous missense variant in a patient with VPS13D movement disorder: a case report and review of the literature.
Baker EK et al.
Molecular Genetics and Genomics : Mgg, 2023
Screening of candidate genes at GLC3B and GLC3C loci in Chinese primary congenital glaucoma patients with targeted next generation sequencing.
Qiao Y et al.
Ophthalmic Genetics, 2023
36193031 (PubMed )
Supplement: supplement_1.pdf
Deciphering genes associated with diffuse large B-cell lymphoma with lymphomatous effusions: A mutational accumulation scoring approach.
Abdollahi S et al.
Biomarker Research, 2021
34635181 (PubMed )
Supplement: 40364_2021_330_MOESM2_ESM.xlsx › ___1
Exome sequencing in paediatric patients with movement disorders.
Kwong AK et al.
Orphanet Journal of Rare Diseases, 2021
Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.
de Voer RM et al.
Plos Genetics, 2016
26901136 (PubMed )
Supplement: pgen.1005880.s003.xlsx › S3_Table
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