GenomicsbioRxivPreprint
Recurrent AIPL1 c.487C>T truncating variant in Leber Congenital Amaurosis: Support of pathogenicity and regional implications
Mohammed O. E. Abdallah, Mahmoud Koko, Shima Faisal…·Muntaser Eltayeb Ibrahim
The paper reports a recurrent AIPL1 truncating variant in a Sudanese family with Leber Congenital Amaurosis, supporting its pathogenicity and regional significance.
DOI 10.1101/290650