Publications:

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Scrutinizing Deleterious Nonsynonymous SNPs and Their Effect on Human POLD1 Gene.

Genetics Research

Bappy, Md Nazmul Islam MNI; Roy, Anindita A; Rabbi, Md Gulam Rabbany MGR; Jahan, Nusrat N; Chowdhury, Fahmida Akther FA; Hoque, Syeda Farjana SF; Sajib, Emran Hossain EH; Khan, Parvez P; Hossain, Ferdaus Mohd Altaf FMA; Zinnah, Kazi Md Ali KMA

Publication Date: 2022

Variant appearance in text: POLE: E1577A

PubMed Link: 35620275

Variant Present in the following documents:

• GR2022-1740768.pdf

View BVdb publication page

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POLE/POLD1 mutation in non-exonuclease domain matters for predicting efficacy of immune-checkpoint-inhibitor therapy.

Clinical And Translational Medicine

Chen, Yan-Xing YX; Wang, Zi-Xian ZX; Yuan, Shu-Qiang SQ; Jiang, Teng-Jia TJ; Huang, You-Sheng YS; Xu, Rui-Hua RH; Wang, Feng F; Zhao, Qi Q

Publication Date: 2021-09

Variant appearance in text: POLE: E1577A

PubMed Link: 34586735

Variant Present in the following documents:

• CTM2-11-e524-s001.xlsx, sheet 2

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: rs5744948

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

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: POLE: 4730A>C; E1577A

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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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: POLE: 4730A>C; Glu1577Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: POLE: E1577A

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

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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: rs5744948

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: POLE: E1577A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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DNA replication fidelity and cancer.

Seminars In Cancer Biology

Preston, Bradley D BD; Albertson, Tina M TM; Herr, Alan J AJ

Publication Date: 2010-10

Variant appearance in text: POLE: E1577A

PubMed Link: 20951805

Variant Present in the following documents:

• Main text

View BVdb publication page

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Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing.

American Journal Of Human Genetics

Hiller, Michael M; Huse, Klaus K; Szafranski, Karol K; Jahn, Niels N; Hampe, Jochen J; Schreiber, Stefan S; Backofen, Rolf R; Platzer, Matthias M

Publication Date: 2006-02

Variant appearance in text: rs5744948

PubMed Link: 16400609

Variant Present in the following documents:

• Main text

View BVdb publication page

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