Publications:

A phase I clinical trial of human embryonic stem cell-derived retinal pigment epithelial cells for early-stage Stargardt macular degeneration: 5-years' follow-up.

Cell Proliferation

Li, Shi-Ying SY; Liu, Yong Y; Wang, Lei L; Wang, Fang F; Zhao, Tong-Tao TT; Li, Qi-You QY; Xu, Hai-Wei HW; Meng, Xiao-Hong XH; Hao, Jie J; Zhou, Qi Q; Wang, Liu L; Yin, Zheng-Qin ZQ

Publication Date: 2021-09

Variant appearance in text: STGD1: 3749T>C

PubMed Link: 34347352

Variant Present in the following documents:

• Main text
• CPR-54-e13100.pdf

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A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: ABCA4: L1250P

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Linker Domains: Why ABC Transporters 'Live in Fragments no Longer'.

Trends In Biochemical Sciences

Ford, Robert C RC; Marshall-Sabey, Dominic D; Schuetz, John J

Publication Date: 2020-02

Variant appearance in text: ABCA4: L1250P

PubMed Link: 31839525

Variant Present in the following documents:

• Main text

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: STGD1: L1250P

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ABCA4: L1250P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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