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Liu Xiao

3 articles in GJC

3 articles in GJC

2.

Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4.

Fujinami-Yokokawa Yu, Joo Kwangsic, Liu Xiao, Tsunoda Kazushige, Kondo Mineo, Ahn Seong Joon et al.

Invest Ophthalmol Vis SciJan 20245 citationsCohort Study

This study found two RP1L1 gene hotspots cause distinct Miyake disease phenotypes: p.R45W leads to earlier, more severe vision loss, while 1196-1201aa causes a milder form, aiding prognosis and treatment.

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