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: G423R; rs767601598

PubMed Link: 35865963

Variant Present in the following documents:

• Table12.xlsx, sheet 1

View BVdb publication page

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Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.

Bmc Medicine

Savatt, Juliann M JM; Ortiz, Nicole M NM; Thone, Gretchen M GM; McDonald, Whitney S WS; Kelly, Melissa A MA; Berry, Alexander S F ASF; Alvi, Madiha M MM; Hallquist, Miranda L G MLG; Malinowski, Jennifer J; Purdy, Nicholas C NC; Williams, Marc S MS; Sturm, Amy C AC; Buchanan, Adam H AH

Publication Date: 2022-06-07

Variant appearance in text: RET: 1267G>A

PubMed Link: 35668420

Variant Present in the following documents:

• Main text
• 12916_2022_2375_MOESM1_ESM.xlsx, sheet 1
• 12916_2022_Article_2375.pdf

View BVdb publication page

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Whole-exome sequencing identified mutational profiles of high-grade colon adenomas.

Oncotarget

Lee, Sung Hak SH; Jung, Seung Hyun SH; Kim, Tae-Min TM; Rhee, Je-Keun JK; Park, Hyeon-Chun HC; Kim, Min Sung MS; Kim, Sung Soo SS; An, Chang Hyeok CH; Lee, Sug Hyung SH; Chung, Yeun-Jun YJ

Publication Date: 2017-01-24

Variant appearance in text: RET: 1267G>A; G423R

PubMed Link: 28179590

Variant Present in the following documents:

• Main text
• oncotarget-08-6579-s002.xlsx, sheet 1
• oncotarget-08-6579.pdf

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: RET: G423R

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.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: HSCR1: G423R

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: G423R

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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Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events.

Bmc Medical Genetics

Núñez-Torres, Rocio R; Fernández, Raquel M RM; Acosta, Manuel Jesus MJ; Enguix-Riego, Maria Del Valle Mdel V; Marbá, Martina M; Carlos de Agustín, Juan J; Castaño, Luis L; Antiñolo, Guillermo G; Borrego, Salud S

Publication Date: 2011-10-13

Variant appearance in text: RET: 1267G>A; Gly423Arg

PubMed Link: 21995290

Variant Present in the following documents:

• Main text
• 1471-2350-12-138.pdf

View BVdb publication page

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