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Recurrent AIPL1 c.487C>T truncating variant in Leber Congenital Amaurosis: Support of pathogenicity and regional implications
View ORCID ProfileMohammed O.E. Abdallah, Mahmoud E. Koko, Shima Faisal, Melanie J. Newport, Muntaser E. Ibrahim
doi: https://doi.org/10.1101/290650
Mohammed O.E. Abdallah
1Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan
Mahmoud E. Koko
1Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan
2Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tuebingen, Germany
Shima Faisal
3Faculty of Pharmacy, University of Khartoum, Khartoum, Sudan
Melanie J. Newport
4Wellcome Trust Brighton and Sussex Centre for Global Health Research, Brighton and Sussex Medical School, Brighton, UK
Muntaser E. Ibrahim
1Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan
Posted March 28, 2018.
Recurrent AIPL1 c.487C>T truncating variant in Leber Congenital Amaurosis: Support of pathogenicity and regional implications
Mohammed O.E. Abdallah, Mahmoud E. Koko, Shima Faisal, Melanie J. Newport, Muntaser E. Ibrahim
bioRxiv 290650; doi: https://doi.org/10.1101/290650
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