Associated Papers
Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.
Suárez-González J et al.
Bmc Medical Genomics, 2021
33771153 (PubMed )
Supplement: 12920_2021_943_MOESM2_ESM.xls › Retained_Variants
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1696.600
Natural mutations lead to enhanced proteasomal degradation of human Ncb5or, a novel flavoheme reductase.
Kálmán FS et al.
Biochimie, 2013
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