Publications:

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: PTEN: F200S

PubMed Link: 36561320

Variant Present in the following documents:

• Table3.xlsx, sheet 1
• Table2.xlsx, sheet 6

View BVdb publication page

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Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.

Molecular Genetics & Genomic Medicine

Kaymakcalan, Hande H; Kaya, İlyas İ; Cevher Binici, Nagihan N; Nikerel, Emrah E; Özbaran, Burcu B; Görkem Aksoy, Mehmet M; Erbilgin, Seda S; Özyurt, Gonca G; Jahan, Noor N; Çelik, Didem D; Yararbaş, Kanay K; Yalçınkaya, Leyla L; Köse, Sezen S; Durak, Sibel S; Ercan-Sencicek, Adife Gulhan AG

Publication Date: 2021-08

Variant appearance in text: PTEN: F200S

PubMed Link: 34268892

Variant Present in the following documents:

• Main text
• MGG3-9-e1739.pdf

View BVdb publication page

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Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.

Molecular Genetics & Genomic Medicine

Kaymakcalan, Hande H; Kaya, İlyas İ; Cevher Binici, Nagihan N; Nikerel, Emrah E; Özbaran, Burcu B; Görkem Aksoy, Mehmet M; Erbilgin, Seda S; Özyurt, Gonca G; Jahan, Noor N; Çelik, Didem D; Yararbaş, Kanay K; Yalçınkaya, Leyla L; Köse, Sezen S; Durak, Sibel S; Ercan-Sencicek, Adife Gulhan AG

Publication Date: 2021-08

Variant appearance in text: PTEN: F200S

PubMed Link: 34268892

Variant Present in the following documents:

• Main text
• MGG3-9-e1739.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: PTEN: 599T>C; F200S

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.

Nature Communications

Rashid, Mamunur M; van der Horst, Michiel M; Mentzel, Thomas T; Butera, Francesca F; Ferreira, Ingrid I; Pance, Alena A; Rütten, Arno A; Luzar, Bostjan B; Marusic, Zlatko Z; de Saint Aubain, Nicolas N; Ko, Jennifer S JS; Billings, Steven D SD; Chen, Sofia S; Abi Daoud, Marie M; Hewinson, James J; Louzada, Sandra S; Harms, Paul W PW; Cerretelli, Guia G; Robles-Espinoza, Carla Daniela CD; Patel, Rajiv M RM; van der Weyden, Louise L; Bakal, Chris C; Hornick, Jason L JL; Arends, Mark J MJ; Brenn, Thomas T; Adams, David J DJ

Publication Date: 2019-05-17

Variant appearance in text: PTEN: 599T>C; Phe200Ser

PubMed Link: 31101826

Variant Present in the following documents:

• 41467_2019_9979_MOESM5_ESM.xlsx, sheet 5

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: PTEN: F200S

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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A Bayesian framework for efficient and accurate variant prediction.

Plos One

Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH

Publication Date: 2018

Variant appearance in text: PTEN: 599T>C; F200S

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

View BVdb publication page

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