Publications:

Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.

Investigative Ophthalmology & Visual Science

Wang, Yingwei Y; Sun, Wenmin W; Zhou, Jing J; Li, Xueqing X; Jiang, Yi Y; Li, Shiqiang S; Jia, Xiaoyun X; Xiao, Xueshan X; Ouyang, Jiamin J; Wang, Yueye Y; Zhou, Lin L; Long, Yuxi Y; Liu, Mengchu M; Li, Yongyu Y; Yi, Zhen Z; Wang, Panfeng P; Zhang, Qingjiong Q

Publication Date: 2022-05-02

Variant appearance in text: PS1: 652C>T

PubMed Link: 35608843

Variant Present in the following documents:

• iovs-63-5-28_s010.pdf

View BVdb publication page

Validation and clinical application of transactivation assays for RUNX1 variant classification.

Blood Advances

Decker, Melanie M; Agarwal, Anupriya A; Benneche, Andreas A; Churpek, Jane J; Duployez, Nicolas N; Duvall, Adam A; Ernst, Martijn P T MPT; Förster, Alisa A; Høberg-Vetti, Hildegunn H; Hofmann, Inga I; Nash, Michelle M; Raaijmakers, Marc H G P MHGP; Tvedt, Tor H A THA; Vlachos, Adrianna A; Schlegelberger, Brigitte B; Illig, Thomas T; Ripperger, Tim T

Publication Date: 2022-06-14

Variant appearance in text: PS1: 652C>T

PubMed Link: 35026845

Variant Present in the following documents:

• advancesADV2021006161-suppl1.pdf

View BVdb publication page