Publications:

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: G216D; rs775262569

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Transmembrane Polar Relay Drives the Allosteric Regulation for ABCG5/G8 Sterol Transporter.

International Journal Of Molecular Sciences

Xavier, Bala M BM; Zein, Aiman A AA; Venes, Angelica A; Wang, Junmei J; Lee, Jyh-Yeuan JY

Publication Date: 2020-11-19

Variant appearance in text: ABCG8: G216D

PubMed Link: 33228147

Variant Present in the following documents:

• Main text
• ijms-21-08747-s001.pdf
• ijms-21-08747.pdf

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Crystal structure of the human sterol transporter ABCG5/ABCG8.

Nature

Lee, Jyh-Yeuan JY; Kinch, Lisa N LN; Borek, Dominika M DM; Wang, Jin J; Wang, Junmei J; Urbatsch, Ina L IL; Xie, Xiao-Song XS; Grishin, Nikolai V NV; Cohen, Jonathan C JC; Otwinowski, Zbyszek Z; Hobbs, Helen H HH; Rosenbaum, Daniel M DM

Publication Date: 2016-05-26

Variant appearance in text: ABCG8: G216D

PubMed Link: 27144356

Variant Present in the following documents:

• Main text

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Purification and reconstitution of sterol transfer by native mouse ABCG5 and ABCG8.

Biochemistry

Wang, Jin J; Zhang, Da-Wei DW; Lei, Ying Y; Xu, Fang F; Cohen, Jonathan C JC; Hobbs, Helen H HH; Xie, Xiao-Song XS

Publication Date: 2008-05-06

Variant appearance in text: ABCG8: G216D

PubMed Link: 18402465

Variant Present in the following documents:

• Main text

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Sterol transfer by ABCG5 and ABCG8: in vitro assay and reconstitution.

The Journal Of Biological Chemistry

Wang, Jin J; Sun, Fang F; Zhang, Da-wei DW; Ma, Yongming Y; Xu, Fang F; Belani, Jitendra D JD; Cohen, Jonathan C JC; Hobbs, Helen H HH; Xie, Xiao-Song XS

Publication Date: 2006-09-22

Variant appearance in text: ABCG8: G216D

PubMed Link: 16867993

Variant Present in the following documents:

• Main text

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