المؤلفون: Varela, MD, Motta, FL, Webster, AR, Arno, G

المصدر: Ophthalmic Genetics , 43 (1) pp. 110-115. (2021)

مصطلحات موضوعية: Retinal dystrophy, VPS13, Bin-frame deletion, Cohen syndrome, hypomorphic

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10137840/1/Arno_A%20rare%20canonical%20splice-site%20variant%20in%20VPS13B%20causes%20attenuated%20Cohen%20syndrome.pdf; https://discovery.ucl.ac.uk/id/eprint/10137840/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10137840/1/Arno_A%20rare%20canonical%20splice-site%20variant%20in%20VPS13B%20causes%20attenuated%20Cohen%20syndrome.pdf
https://discovery.ucl.ac.uk/id/eprint/10137840/