المؤلفون: Georgina Hall, Sanjeev S. Bhaskar, Rahat Perveen, Simon C. Lovell, Panagiotis I. Sergouniotis, Graeme C.M. Black, Christopher Campbell, Simon C Ramsden, Jamie M Ellingford, Stephanie Barton, Sarah Waller, Rachel L. Gillespie

المصدر: Sergouniotis, P I, Barton, S J, Waller, S, Perveen, R, Ellingford, J M, Campbell, C, Hall, G, Gillespie, R L, Bhaskar, S S, Ramsden, S C, Black, G C & Lovell, S C 2016, ' The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity ', Orphanet Journal of Rare Diseases, vol. 11, no. 1, 125 . https://doi.org/10.1186/s13023-016-0505-0Test
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: 0301 basic medicine, Proband, Reading Frames, Eye Diseases, In silico, Context (language use), In-frame insertions/deletions, 030105 genetics & heredity, Biology, Cataract, 03 medical and health sciences, INDEL Mutation, Cataracts, Retinal Dystrophies, Childhood cataract, medicine, Humans, Genetics(clinical), Pharmacology (medical), Indel, Genetics (clinical), Genetics, Medicine(all), Genetic heterogeneity, Research, Retinal dystrophy, Computational Biology, Homology modeling, General Medicine, medicine.disease, Inherited eye disease, Human genetics, 030104 developmental biology, Eye disorder

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd8f30c1979f57a3c6d909aa9bd0cbffTest