Publications:

Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH).

Human Mutation

Sarafrazi, Soodabeh S; Daugherty, Sean C SC; Miller, Nicole N; Boada, Patrick P; Carpenter, Thomas O TO; Chunn, Lauren L; Dill, Kariena K; Econs, Michael J MJ; Eisenbeis, Scott S; Imel, Erik A EA; Johnson, Britt B; Kiel, Mark J MJ; Krolczyk, Stan S; Ramesan, Prameela P; Truty, Rebecca R; Sabbagh, Yves Y

Publication Date: 2022-02

Variant appearance in text: FBN1: C792F

PubMed Link: 34806794

Variant Present in the following documents:

• HUMU-43-143-s001.xlsx, sheet 1

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: FBN1: C792F

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia.

Journal Of Translational Medicine

Sheng, Xunlun X; Chen, Xue X; Lei, Bo B; Chen, Rui R; Wang, Hui H; Zhang, Fangxia F; Rong, Weining W; Ha, Ruoshui R; Liu, Yani Y; Zhao, Feng F; Yang, Peizeng P; Zhao, Chen C

Publication Date: 2015-06-04

Variant appearance in text: FBN1: 2375G>T; C792F

PubMed Link: 26040324

Variant Present in the following documents:

• Main text
• 12967_2015_Article_534.pdf

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