Associated Papers
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S13.xls › human_pat_mouse_phe_orthovar_14
Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations.
Safka Brozkova D et al.
European Journal of Neurology, 2020
Cuticular drusen: stars in the sky.
Boon CJ et al.
Progress in Retinal and Eye Research, 2013
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
Auer-Grumbach M et al.
Brain : a Journal of Neurology, 2011
Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.
Jones RP et al.
Investigative Ophthalmology & Visual Science, 2010
Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.
Lotery AJ et al.
Human Mutation, 2006
Missense variations in the fibulin 5 gene and age-related macular degeneration.
Stone EM et al.
The New England Journal of Medicine, 2004
Advances in base editing: A focus on base transversions.
Wang D et al.
Mutation Research. Reviews in Mutation Research, 0
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