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Whole-exome sequencing identifies PRSS56 variants in Chinese patients with microphthalmia.

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Title: Whole-exome sequencing identifies PRSS56 variants in Chinese patients with microphthalmia.
Authors: Luo J; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, 510060, China.; Department of Ophthalmology, The Third Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, 510630, China., Li K; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, 510060, China., Yang R; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, 510060, China., Tang M; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, 510060, China., Ge J; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, 510060, China. gejian@mail.sysu.edu.cn.
Source: BMC medical genomics [BMC Med Genomics] 2026 Apr 21; Vol. 19 (1). Date of Electronic Publication: 2026 Apr 21.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Whole-exome sequencing identifies PRSS56 variants in Chinese patients with microphthalmia.
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  Data: <searchLink fieldCode="AU" term="%22Luo+J%22">Luo J</searchLink>; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, 510060, China.; Department of Ophthalmology, The Third Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, 510630, China.<br /><searchLink fieldCode="AU" term="%22Li+K%22">Li K</searchLink>; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, 510060, China.<br /><searchLink fieldCode="AU" term="%22Yang+R%22">Yang R</searchLink>; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, 510060, China.<br /><searchLink fieldCode="AU" term="%22Tang+M%22">Tang M</searchLink>; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, 510060, China.<br /><searchLink fieldCode="AU" term="%22Ge+J%22">Ge J</searchLink>; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, 510060, China. gejian@mail.sysu.edu.cn.
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  Data: <searchLink fieldCode="JN" term="%22101319628%22">BMC medical genomics</searchLink> [BMC Med Genomics] 2026 Apr 21; Vol. 19 (1). <i>Date of Electronic Publication: </i>2026 Apr 21.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101319628 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1755-8794 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217558794%22">17558794 </searchLink><i>NLM ISO Abbreviation: </i>BMC Med Genomics <i>Subsets: </i>MEDLINE
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        Value: 10.1186/s12920-026-02376-9
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              Text: 2026 Apr 21
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