Publications:

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Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.

Frontiers In Pharmacology

Panda, Gayatri G; Mishra, Neha N; Sharma, Disha D; Kutum, Rintu R; Bhoyar, Rahul C RC; Jain, Abhinav A; Imran, Mohamed M; Senthilvel, Vigneshwar V; Divakar, Mohit Kumar MK; Mishra, Anushree A; Garg, Parth P; Banerjee, Priyanka P; Sivasubbu, Sridhar S; Scaria, Vinod V; Ray, Arjun A

Publication Date: 2022

Variant appearance in text: RET: A640G; rs78935588

PubMed Link: 35865963

Variant Present in the following documents:

• Table12.xlsx, sheet 1

View BVdb publication page

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Genetic polymorphisms associated with reactive oxygen species and blood pressure regulation.

The Pharmacogenomics Journal

Cuevas, Santiago S; Villar, Van Anthony M VAM; Jose, Pedro A PA

Publication Date: 2019-08

Variant appearance in text: rs78935588

PubMed Link: 30723314

Variant Present in the following documents:

• Main text
• nihms-1517349.pdf

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: RET: 1919C>G; Ala640Gly

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Genetic analysis and clinical investigation of a pedigree with multiple endocrine neoplasia type 2A: A case report.

Oncology Letters

Zou, Hong-Jin HJ; Li, Yu-Shu YS; Shan, Zhong-Yan ZY

Publication Date: 2016-10

Variant appearance in text: MEN2A: A640G

PubMed Link: 27698838

Variant Present in the following documents:

• Main text

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: MEN2A: A640G; rs78935588

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: RET: A640G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Tandem Germline RET Mutations in a Family Pathogenetic for Multiple Endocrine Neoplasia 2B, Confirmed by a Natural Experiment.

European Thyroid Journal

Kihara, Minoru M; Miyauchi, Akira A; Yoshida, Hiroshi H; Yamada, Osamu O; Masuoka, Hiroo H; Yabuta, Tomonori T; Higashiyama, Takuya T; Fukushima, Mitsuhiro M; Ito, Yasuhiro Y; Kobayashi, Kaoru K; Miya, Akihiro A

Publication Date: 2014-12

Variant appearance in text: RET: A640G

PubMed Link: 25759805

Variant Present in the following documents:

• Main text

View BVdb publication page

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Plot protein: visualization of mutations.

Journal Of Clinical Bioinformatics

Turner, Tychele T

Publication Date: 2013-07-22

Variant appearance in text: MEN2A: A640G

PubMed Link: 23876180

Variant Present in the following documents:

• 2043-9113-3-14.pdf

View BVdb publication page

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RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma family.

Plos One

Qi, Xiao-Ping XP; Ma, Ju-Ming JM; Du, Zhen-Fang ZF; Ying, Rong-Biao RB; Fei, Jun J; Jin, Hang-Yang HY; Han, Jian-Shan JS; Wang, Jin-Quan JQ; Chen, Xiao-Ling XL; Chen, Chun-Yue CY; Liu, Wen-Ting WT; Lu, Jia-Jun JJ; Zhang, Jian-Guo JG; Zhang, Xian-Ning XN

Publication Date: 2011

Variant appearance in text: RET: A640G

PubMed Link: 21655256

Variant Present in the following documents:

• Main text
• pone.0020353.pdf

View BVdb publication page

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Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene.

Plos One

Crockett, David K DK; Piccolo, Stephen R SR; Ridge, Perry G PG; Margraf, Rebecca L RL; Lyon, Elaine E; Williams, Marc S MS; Mitchell, Joyce A JA

Publication Date: 2011-03-30

Variant appearance in text: RET: A640G

PubMed Link: 21479187

Variant Present in the following documents:

• pone.0018380.pdf

View BVdb publication page

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RET proto-oncogene genotyping using unlabeled probes, the masking technique, and amplicon high-resolution melting analysis.

The Journal Of Molecular Diagnostics : Jmd

Margraf, Rebecca L RL; Mao, Rong R; Highsmith, W Edward WE; Holtegaard, Leonard M LM; Wittwer, Carl T CT

Publication Date: 2007-04

Variant appearance in text: RET: A640G

PubMed Link: 17384210

Variant Present in the following documents:

• Main text

View BVdb publication page

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