Publications:

FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population.

Genes

Yi, Shutong S; Zheng, Yuxi Y; Yi, Zhen Z; Wang, Yingwei Y; Jiang, Yi Y; Ouyang, Jiamin J; Li, Shiqiang S; Xiao, Xueshan X; Sun, Wenmin W; Wang, Panfeng P; Zhang, Qingjiong Q

Publication Date: 2023-04-21

Variant appearance in text: FDXR: 400G>A; G134R

PubMed Link: 37107710

Variant Present in the following documents:

• Main text
• genes-14-00952.pdf

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: FDXR: 400G>A; Gly134Arg

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: FDXR: 400G>A

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

View BVdb publication page