CrossRef Text and Data Mining
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Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets
Ha Young Jo, Jung Hyun Shin, Hye Young Kim, Young Mi Kim, Heirim Lee, Mi Hye Bae, Kyung Hee Park, Ja-Hyun Jang, Min Jung Kwak
Ann Pediatr Endocrinol Metab. 2020;25(1):63-67.   Published online March 31, 2020
DOI: https://doi.org/10.6065/apem.2020.25.1.63

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Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets
Annals of Pediatric Endocrinology & Metabolism. 2020;25(1):63-67   Crossref logo
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SAT-373 A Case of X Linked Hypophosphatemic Rickets Due to DE Novo Phex Gene Mutation
Journal of the Endocrine Society. 2020;4(Supplement_1):   Crossref logo
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Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets
Human Mutation. 2000;15(4):383-384   Crossref logo
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Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets
Clinical Endocrinology. 2011;74(3):312-318   Crossref logo
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Targeted Hotspot Gene Panel Using Massively Parallel Sequencing (Next Generation Sequencing)
Diagnostic Pathology: Molecular Oncology. 2016;4-20-4-21   Crossref logo
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Identification of Two Novel Mutations in the PHEX Gene in Chinese Patients with Hypophosphatemic Rickets/Osteomalacia
PLoS ONE. 2014;9(5):e97830   Crossref logo
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Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets
PLOS ONE. 2015;10(6):e0130729   Crossref logo
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PHEX Gene Mutations and Genotype-Phenotype Analysis of Korean Patients with Hypophosphatemic Rickets
Journal of Korean Medical Science. 2007;22(6):981   Crossref logo
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Three Novel Mutations of the PHEX Gene in Three Chinese Families with X-linked Dominant Hypophosphatemic Rickets
Calcified Tissue International. 2007;81(6):415-420   Crossref logo
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Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets
Bone. 2008;43(4):663-666   Crossref logo
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