Publications:

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: CDAN1: 2605G>A; Val869Met; rs370895637

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil.

Annals Of Hematology

Svidnicki, M C C M MCCM; Zanetta, G K GK; Congrains-Castillo, A A; Costa, F F FF; Saad, S T O STO

Publication Date: 2020-05

Variant appearance in text: CDAN1: V869M; rs370895637

PubMed Link: 32266426

Variant Present in the following documents:

• Main text
• 277_2020_Article_3986.pdf

View BVdb publication page

The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I.

British Journal Of Haematology

Roy, Noémi B A NBA; Babbs, Christian C

Publication Date: 2019-05

Variant appearance in text: CDA-I: V869M

PubMed Link: 30836435

Variant Present in the following documents:

• BJH-185-436.pdf

View BVdb publication page

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: CDAN1: V869M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page