论文信息 - Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. - 字舞流文

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.

H. Mefford | E. Zackai | D. Zeevi | M. Larsen | P. Rump | Sarah E. Sheppard | D. Doherty | C. Fagerberg | Katharina Löhner | E. Bhoj | Natalie Weed | Yoel Hirsch | Jennifer L. Cohen | D. Demarzo | Yuanquan Song | Alison M. Muir | Tsz Y. Lo | Pavithran Guttipatti | Lars Kjærsgaard