Publications:

Genetic variants in RET, ARHGEF3 and CTNNAL1, and relevant interaction networks, contribute to the risk of Hirschsprung disease.

Aging

Wang, Yang Y; Jiang, Qian Q; Cai, Hao H; Xu, Ze Z; Wu, Wenjie W; Gu, Beilin B; Li, Long L; Cai, Wei W

Publication Date: 2020-03-06

Variant appearance in text: rs2075910

PubMed Link: 32139661

Variant Present in the following documents:

• Main text
• aging-12-102891.pdf

View BVdb publication page

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: RET: 2392+302G>A; rs2075910

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

Determination of RET Sequence Variation in an MEN2 Unaffected Cohort Using Multiple-Sample Pooling and Next-Generation Sequencing.

Journal Of Thyroid Research

Margraf, R L RL; Durtschi, J D JD; Stephens, J E JE; Perez, M M; Voelkerding, K V KV

Publication Date: 2012

Variant appearance in text: RET: 2392+302G>A

PubMed Link: 22545224

Variant Present in the following documents:

• Main text
• JTR2012-318232.pdf

View BVdb publication page

Variant identification in multi-sample pools by illumina genome analyzer sequencing.

Journal Of Biomolecular Techniques : Jbt

Margraf, Rebecca L RL; Durtschi, Jacob D JD; Dames, Shale S; Pattison, David C DC; Stephens, Jack E JE; Voelkerding, Karl V KV

Publication Date: 2011-07

Variant appearance in text: RET: 2392+302G>A

PubMed Link: 21738440

Variant Present in the following documents:

• Main text

View BVdb publication page