Publications:

Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.

Bmc Ophthalmology

Xing, Dongjun D; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Yang, Yang Y; Li, Chang C; Li, Zhiqing Z; Li, Xiaorong X

Publication Date: 2022-07-23

Variant appearance in text: PC: 3010C>T

PubMed Link: 35870892

Variant Present in the following documents:

• 12886_2022_2532_MOESM5_ESM.xlsx, sheet 1

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Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.

Bmc Gastroenterology

Li, Mingming M; Ma, Jing J; Wang, Wenlong W; Yang, Xu X; Luo, Kaizhong K

Publication Date: 2021-09-01

Variant appearance in text: PC: 3010C>T

PubMed Link: 34470610

Variant Present in the following documents:

• 12876_2021_Article_1911.pdf

View BVdb publication page