Associated Papers
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
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
Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.
Nguyen TT et al.
Journal of Medical Genetics, 2017
Joubert syndrome (and related disorders) (OMIM 213300).
Parisi MA et al.
European Journal of Human Genetics : Ejhg, 2007
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
Parisi MA et al.
Journal of Medical Genetics, 2006
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