Publications:

Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: SLC45A2: 386-51C>T; rs250413

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Bmc Ophthalmology

Xing, Dongjun D; Zhou, Huaiyu H; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Li, Zhiqing Z; Li, Xiaorong X

Publication Date: 2020-12-10

Variant appearance in text: rs250413

PubMed Link: 33302902

Variant Present in the following documents:

• 12886_2020_1711_MOESM1_ESM.xlsx, sheet 1

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Human adaptation and population differentiation in the light of ancient genomes.

Nature Communications

Key, Felix M FM; Fu, Qiaomei Q; Romagné, Frédéric F; Lachmann, Michael M; Andrés, Aida M AM

Publication Date: 2016-03-18

Variant appearance in text: rs250413

PubMed Link: 26988143

Variant Present in the following documents:

• ncomms10775.pdf

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