Associated Papers
A CVID-associated variant in the ciliogenesis protein CCDC28B disrupts immune synapse assembly.
Capitani N et al.
Cell Death and Differentiation, 2022
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1
Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.
Xing D et al.
Bmc Ophthalmology, 2020
33302902 (PubMed )
Supplement: 12886_2020_1711_MOESM1_ESM.xlsx › RawData
RE: Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.
Barroso-Gil M et al.
Pediatric Neurology, 2020
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 1._nonsynonymous_variants
How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.
Middha S et al.
Frontiers in Genetics, 2015
26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2
Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.
Szeto CY et al.
Febs Open Bio, 2014
24490137 (PubMed )
Supplement: mmc5.xlsx › coding
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.
Audo I et al.
Orphanet Journal of Rare Diseases, 2012
Gene variations in autism spectrum disorder are associated with alteration of gut microbiota, metabolites and cytokines.
Liu Z et al.
Gut Microbes, 0
33412999 (PubMed )
Supplement: KGMI_A_1854967_SM8160.zip › Supplementary__files › Supplementary_Tables.xlsx › Table_S1
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