Publications:

Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.

Investigative Ophthalmology & Visual Science

Wang, Junwen J; Wang, Yingwei Y; Li, Shiqiang S; Xiao, Xueshan X; Yi, Zhen Z; Jiang, Yi Y; Li, Xueqing X; Jia, Xiaoyun X; Wang, Panfeng P; Jin, Chenjin C; Sun, Wenmin W; Zhang, Qingjiong Q

Publication Date: 2022-08-02

Variant appearance in text: HSF: 2T>C

PubMed Link: 35994252

Variant Present in the following documents:

• iovs-63-9-24_s004.xlsx, sheet 1

View BVdb publication page

Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.

Orphanet Journal Of Rare Diseases

Borges, Pâmella P; Pasqualim, Gabriela G; Giugliani, Roberto R; Vairo, Filippo F; Matte, Ursula U

Publication Date: 2020-11-18

Variant appearance in text: HSF: 2T>C

PubMed Link: 33208168

Variant Present in the following documents:

• 13023_2020_1608_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page