Publications:

A single RET mutation in Hirschsprung disease induces intestinal aganglionosis via a dominant-negative mechanism.

Cellular And Molecular Gastroenterology And Hepatology

Sunardi, Mukhamad M; Ito, Keisuke K; Sato, Yuya Y; Uesaka, Toshihiro T; Iwasaki, Mitsuhiro M; Enomoto, Hideki H

Publication Date: 2022-12-12

Variant appearance in text: RET: N394K

PubMed Link: 36521661

Variant Present in the following documents:

• Main text
• main.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: RET: N394K

PubMed Link: 35865963

Variant Present in the following documents:

• Table12.xlsx, sheet 1

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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: N394K

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: N394K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Bolk, S S; Pelet, A A; Hofstra, R M RM; Angrist, M M; Salomon, R R; Croaker, D D; Buys, C H CH; Lyonnet, S S; Chakravarti, A A

Publication Date: 2000-01-04

Variant appearance in text: RET: N394K

PubMed Link: 10618407

Variant Present in the following documents:

• Main text

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