Publications:

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: ABCG8: 1877G>T; Gly626Val

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: ABCG8: G626V; rs763289865

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation.

Lipids In Health And Disease

Zhang, Jun J; Chen, Qiu-Li QL; Guo, Song S; Li, Yan-Hong YH; Li, Chuan C; Zheng, Ru-Jiang RJ; Luo, Xue-Qun XQ; Ma, Hua-Mei HM

Publication Date: 2022-10-13

Variant appearance in text: ABCG8: 1877G>T; Gly626Val

PubMed Link: 36229885

Variant Present in the following documents:

• Main text
• 12944_2022_Article_1710.pdf

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Application of high-throughput sequencing for hereditary thrombocytopenia in southwestern China.

Journal Of Clinical Laboratory Analysis

Zhang, Luying L; Yu, Jie J; Xian, Ying Y; Wen, Xianhao X; Guan, Xianmin X; Guo, Yuxia Y; Luo, Mingzhu M; Dou, Ying Y

Publication Date: 2021-08

Variant appearance in text: ABCG8: 1877G>T; Gly626Val

PubMed Link: 34237177

Variant Present in the following documents:

• Main text
• JCLA-35-e23896.pdf

View BVdb publication page