Publications:

Comprehensive molecular profiling of pulmonary pleomorphic carcinoma.

Npj Precision Oncology

Nagano, Masaaki M; Kohsaka, Shinji S; Hayashi, Takuo T; Ueno, Toshihide T; Kojima, Shinya S; Shinozaki-Ushiku, Aya A; Morita, Shigeki S; Tsuda, Masumi M; Tanaka, Shinya S; Shinohara, Toshiya T; Omori, Yuko Y; Sugaya, Fumiko F; Kato, Hiroaki H; Narita, Yoshiaki Y; Nakajima, Jun J; Suzuki, Kenji K; Takamochi, Kazuya K; Mano, Hiroyuki H

Publication Date: 2021-06-22

Variant appearance in text: NF1: 3974+38T>G

PubMed Link: 34158601

Variant Present in the following documents:

• 41698_2021_201_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: NF1: 3974+38T>G; rs9894862

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One

Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD

Publication Date: 2019

Variant appearance in text: NF1: 3974+38T>G

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 19
• pone.0210079.s007.xlsx, sheet 4
• pone.0210079.s007.xlsx, sheet 20

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: NF1: 3974+38T>G; rs9894862

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page