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: N/A

PubMed Link: 36413997

Variant Present in the following documents:

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Mutant cycle analysis identifies a ligand interaction site in an odorant receptor of the malaria vector Anopheles gambiae.

The Journal Of Biological Chemistry

Rahman, Suhaila S; Luetje, Charles W CW

Publication Date: 2017-11-17

Variant appearance in text: TMD: T206I

PubMed Link: 28972152

Variant Present in the following documents:

• Main text

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A determinant of odorant specificity is located at the extracellular loop 2-transmembrane domain 4 interface of an Anopheles gambiae odorant receptor subunit.

Chemical Senses

Hughes, David T DT; Wang, Guirong G; Zwiebel, Laurence J LJ; Luetje, Charles W CW

Publication Date: 2014-11

Variant appearance in text: TMD: T206I

PubMed Link: 25270378

Variant Present in the following documents:

• Main text

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