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<i>BEST1</i> mutations identified in the patients.

NIAID Data Ecosystem2026-03-10 收录

BEST1基因突变

遗传性眼病

数据链接：

https://figshare.com/articles/dataset/_i_BEST1_i_mutations_identified_in_the_patients_/4521383 数据链接链接失效反馈

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资源简介：

BEST1 mutations identified in the patients.

应用场景：

创建时间：

2017-01-06

遗传性眼病

基因变异

To report the ophthalmological findings of a new phenotypical variant of RP1L1 maculopathy in an Indian patient with a homozygous variant in the RP1L1 gene A 39-year-old male presented w

DataCite Commons2022-06-06 更新110

Supplementary Material for: Novel Data about Association of the Functionally Significant Polymorphisms of the MMP9 Gene with Exfoliation Glaucoma in the Caucasian Population of Central Russia

遗传性眼病

基因多态性分析

Aim: This study aimed to investigate the role of functionally significant polymorphisms of the MMP1, MMP3, and MMP9 genes in the development of exfoliation glaucoma (XFG) in the Caucasian population o

NIAID Data Ecosystem50

Criteria for assigning clinical categories to males with RPGR mutations.

遗传性眼病

基因突变临床分类

Criteria for assigning clinical categories to males with RPGR mutations.

NIAID Data Ecosystem40

Additional file 2 of Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus

遗传性眼病

基因突变分析

Additional file 2. RDH5 mutation results.

Figshare2024-02-15 更新60

StoneRounds Case: SR2139