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: ESR1: G77R; rs9340773

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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DaT Scan "Abnormality" in Hyperglycemic-Hemichorea.

Tremor And Other Hyperkinetic Movements (New York, N.Y.)

Doher, Nicholas N; Gupta, Harsh V HV

Publication Date: 2019

Variant appearance in text: rs9340773

PubMed Link: 31824748

Variant Present in the following documents:

• tre-09-739-s003.xlsx, sheet 3

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs9340773

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Functional analyses of endometriosis-related polymorphisms in the estrogen synthesis and metabolism-related genes.

Plos One

Wang, Hsin-Shih HS; Wu, Hsien-Ming HM; Cheng, Bi-Hwa BH; Yen, Chih-Feng CF; Chang, Pi-Yueh PY; Chao, Angel A; Lee, Yun-Shien YS; Huang, Hsien-Da HD; Wang, Tzu-Hao TH

Publication Date: 2012

Variant appearance in text: rs9340773

PubMed Link: 23139742

Variant Present in the following documents:

• Main text
• pone.0047374.pdf

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