Publications:

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: ABCC4: 2536-12677A>G; rs6650282

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs6650282

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs6650282

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1
• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: rs6650282

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

Population-Specific Resequencing Associates the ATP-Binding Cassette Subfamily C Member 4 Gene With Gout in New Zealand Māori and Pacific Men.

Arthritis & Rheumatology (Hoboken, N.J.)

Tanner, Callum C; Boocock, James J; Stahl, Eli A EA; Dobbyn, Amanda A; Mandal, Asim K AK; Cadzow, Murray M; Phipps-Green, Amanda J AJ; Topless, Ruth K RK; Hindmarsh, Jennie Harré JH; Stamp, Lisa K LK; Dalbeth, Nicola N; Choi, Hyon K HK; Mount, David B DB; Merriman, Tony R TR

Publication Date: 2017-07

Variant appearance in text: rs6650282

PubMed Link: 28371506

Variant Present in the following documents:

• Main text

View BVdb publication page