Associated Papers
Local and Global Protein Interactions Contribute to Residue Entrenchment in Beta-Lactamase TEM-1.
Birgy A et al.
Antibiotics (basel, Switzerland), 2022
Improving the in silico assessment of pathogenicity for compensated variants.
Azevedo L et al.
European Journal of Human Genetics : Ejhg, 2016
Identification of cis-suppression of human disease mutations by comparative genomics.
Jordan DM et al.
Nature, 2015
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
Zaghloul NA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4).
Ye X et al.
Dna Sequence : the Journal of Dna Sequencing and Mapping, 2004
Beyond Mendel: an evolving view of human genetic disease transmission.
Badano JL et al.
Nature Reviews. Genetics, 2002
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
Katsanis N et al.
American Journal of Human Genetics, 2002
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