Publications:

Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency.

Human Reproduction (Oxford, England)

Bestetti, I I; Barbieri, C C; Sironi, A A; Specchia, V V; Yatsenko, S A SA; De Donno, M D MD; Caslini, C C; Gentilini, D D; Crippa, M M; Larizza, L L; Marozzi, A A; Rajkovic, A A; Toniolo, D D; Bozzetti, M P MP; Finelli, P P

Publication Date: 2021-10-18

Variant appearance in text: JAK2: R947Q

PubMed Link: 34480478

Variant Present in the following documents:

• deab192.pdf

View BVdb publication page

Recurrent PDGFRB mutations in unicentric Castleman disease.

Leukemia

Li, Zhaoming Z; Lan, Xuan X; Li, Chaoping C; Zhang, Yanjie Y; Wang, Yingjun Y; Xue, Weili W; Lu, Lisha L; Jin, Mengyuan M; Zhou, Zhiyuan Z; Wang, Xinhua X; Li, Ling L; Zhang, Lei L; Li, Xin X; Fu, Xiaorui X; Sun, Zhenchang Z; Wu, Jingjing J; Zhang, Xudong X; Yu, Hui H; Nan, Feifei F; Chang, Yu Y; Yan, Jiaqin J; Wu, Xiaolong X; Wang, Guannan G; Zhang, Dandan D; Zhang, Yuan Y; Young, Ken H KH; Zhang, Mingzhi M

Publication Date: 2019-04

Variant appearance in text: JAK2: R947Q

PubMed Link: 30607019

Variant Present in the following documents:

• 41375_2018_323_MOESM5_ESM.xls, sheet 2

View BVdb publication page