Publications:

KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs374331677

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 4

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs374331677

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 4

View BVdb publication page

Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.

Human Mutation

Chen, Hannah Jinlian HJ; Romigh, Todd T; Sesock, Kaitlin K; Eng, Charis C

Publication Date: 2017-10

Variant appearance in text: PTEN: 79+7A>G

PubMed Link: 28677221

Variant Present in the following documents:

• Main text
• HUMU-38-1372.pdf
• HUMU-38-1372-s001.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: PTEN: 79+7A>G

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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KLLN epigenotype-phenotype associations in Cowden syndrome.

European Journal Of Human Genetics : Ejhg

Nizialek, Emily A EA; Mester, Jessica L JL; Dhiman, Vineet K VK; Smiraglia, Dominic J DJ; Eng, Charis C

Publication Date: 2015-11

Variant appearance in text: PTEN: 79+7A>G

PubMed Link: 25669429

Variant Present in the following documents:

View BVdb publication page