Associated Papers
Promises and pitfalls of whole-exome sequencing exemplified by a nephrotic syndrome family.
Guaragna MS et al.
Molecular Genetics and Genomics : Mgg, 2020
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
Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.
Lucas SEM et al.
Plos One, 2018
29924831 (PubMed )
Supplement: pone.0199178.s003.xlsx › Sheet1
Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants.
Shulman C et al.
Kidney Medicine, 0
33851121 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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