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

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

Content Provider	Europe PMC
Author	Sarafrazi, Soodabeh Daugherty, Sean C. Miller, Nicole Boada, Patrick Carpenter, Thomas O. Chunn, Lauren Dill, Kariena Econs, Michael J. Eisenbeis, Scott Imel, Erik A. Johnson, Britt Kiel, Mark J. Krolczyk, Stan Ramesan, Prameela Truty, Rebecca Sabbagh, Yves
Related Links	https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC9299612&blobtype=pdf
Page Count	15
ISSN	10597794
Journal	Human Mutation [Hum Mutat]
Volume Number	43
DOI	10.1002/humu.24296
PubMed Central reference number	PMC9299612
Issue Number	2
PubMed reference number	34806794
e-ISSN	10981004
Language	English
Publisher	John Wiley and Sons Inc.
Publisher Date	2021-12-05
Publisher Place	Hoboken
Access Restriction	Open
Rights License	This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. © 2021 The Authors. Human Mutation published by Wiley Periodicals LLC
Subject Keyword	fibroblast growth factor 23 (FGF23) locus‐specific database osteomalacia Phosphate regulating gene with Homology to Endopeptidases that maps to the X chromosome (PHEX) rickets X‐linked hypophosphatemia (XLH)
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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