Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)
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Title
Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)
Authors
Keywords
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Journal
HUMAN MUTATION
Volume 43, Issue 2, Pages 143-157
Publisher
Wiley
Online
2021-11-22
DOI
10.1002/humu.24296
References
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Related references
Note: Only part of the references are listed.- Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population
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- X‐Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3′‐UTR Mutation c.*231A>G (A Retrospective Case‐Control Study)
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- Functional Characterization of PHEX Gene Variants in Children With X ‐Linked Hypophosphatemic Rickets Shows No Evidence of Genotype–Phenotype Correlation
- (2020) Bixia Zheng et al. JOURNAL OF BONE AND MINERAL RESEARCH
- A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X‐linked hypophosphatemic rickets in a Chinese family
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- FGF23 and its role in X-linked hypophosphatemia-related morbidity
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- A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial Evaluating the Efficacy of Burosumab, an Anti-FGF23 Antibody, in Adults With X-Linked Hypophosphatemia: Week 24 Primary Analysis
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- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
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- (2012) Celeste Owen et al. JOURNAL OF CELLULAR BIOCHEMISTRY
- Mutation in Phex Gene Predisposes BALB/c-PhexHyp-Duk/Y Mice to Otitis Media
- (2012) Fengchan Han et al. PLoS One
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