Publications:

Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: NPC1: 2054T>C; Ile685Thr

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients.

Orphanet Journal Of Rare Diseases

Zhang, Huiwen H; Wang, Yu Y; Lin, Na N; Yang, Rui R; Qiu, Wenjuan W; Han, Lianshu L; Ye, Jun J; Gu, Xuefan X

Publication Date: 2014-06-10

Variant appearance in text: NPC1: 2054T>C; I685T

PubMed Link: 24915861

Variant Present in the following documents:

• Main text
• 1750-1172-9-82.pdf

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