Publications:

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Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility.

Science Advances

Villarroya-Beltri, Carolina C; Osorio, Ana A; Torres-Ruiz, Raúl R; Gómez-Sánchez, David D; Trakala, Marianna M; Sánchez-Belmonte, Agustin A; Mercadillo, Fátima F; Hurtado, Begoña B; Pitarch, Borja B; Hernández-Núñez, Almudena A; Gómez-Caturla, Antonio A; Rueda, Daniel D; Perea, José J; Rodríguez-Perales, Sandra S; Malumbres, Marcos M; Urioste, Miguel M

Publication Date: 2022-11-04

Variant appearance in text: RET: S922Y

PubMed Link: 36322655

Variant Present in the following documents:

• sciadv.abq5914.pdf

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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: N/A

PubMed Link: 35865963

Variant Present in the following documents:

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: RET: S922Y

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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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: S922Y

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: S922Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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The energy landscape analysis of cancer mutations in protein kinases.

Plos One

Dixit, Anshuman A; Verkhivker, Gennady M GM

Publication Date: 2011

Variant appearance in text: RET: S922Y

PubMed Link: 21998754

Variant Present in the following documents:

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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: S922Y

PubMed Link: 17384210

Variant Present in the following documents:

• Main text

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