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: TEK: H400R; rs573051752

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma.

Human Genetics

Kabra, Meha M; Zhang, Wei W; Rathi, Sonika S; Mandal, Anil K AK; Senthil, Sirisha S; Pyatla, Goutham G; Ramappa, Muralidhar M; Banerjee, Seema S; Shekhar, Konegari K; Marmamula, Srinivas S; Mettla, Asha L AL; Kaur, Inderjeet I; Khanna, Rohit C RC; Khanna, Hemant H; Chakrabarti, Subhabrata S

Publication Date: 2017-08

Variant appearance in text: TEK: H400R

PubMed Link: 28620713

Variant Present in the following documents:

• Main text

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