Associated Papers
Whole exome sequencing identifies genetic markers of enterovirus susceptibility in East Asians.
Sung CC et al.
Frontiers in Microbiology, 2024
39234544 (PubMed )
Supplement: Data_Sheet_2.xlsx › worksheet
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.
Greer C et al.
Human Reproduction (oxford, England), 2021
33417716 (PubMed )
Supplement: deaa347_supplementary_data.zip › Suppl_Table_SV_Neand_Shared_Extinct_Revised.pdf
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers.
Citro V et al.
International Journal of Molecular Sciences, 2018
Identification of C21orf59 and ATG2A as novel determinants of renal function-related traits in Japanese by exome-wide association studies.
Yamada Y et al.
Oncotarget, 2017
Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect.
de la Morena-Barrio ME et al.
Journal of Thrombosis and Haemostasis : Jth, 2016
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