EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma (vol 43, pg 240, 2022)

被引:3
作者
Collantes, Edward Ryan A.
Delfin, Manuel S.
Fan, Baojian
Torregosa, Justine May R.
Siguan-Bell, Christine
Vincent de Guzman Florcruz, Nilo
Martinez, Jose Maria D.
Joy Masna-Hidalgo, Barbara
Guzman, Vincent Paul T.
Anotado-Flores, Jewel Faith
Levina, Faye D.
Hernandez, Sophia Raine C.
Collantes, Anthony A.
Sibulo, Michael Carreon
Rong, Shisong
Wiggs, Janey L.
机构
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D O I
10.1002/humu.24395
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
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页码:1343 / 1343
页数:1
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