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Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity
Minji Im, Ari Song, Jiyeon Kim, Min-Sun Kim, Sae-Mi Lee, Mi Jin Kim, Sung Yoon Cho, Dong-Kyu Jin
Ann Pediatr Endocrinol Metab. 2022;27(3):229-235.   Published online October 18, 2021

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Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity
Annals of Pediatric Endocrinology & Metabolism. 2022;27(3):229-235   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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Targeted gene panel provides advantages over whole-exome sequencing for diagnosing obesity and diabetes mellitus
Journal of Molecular Cell Biology. 2023;   Crossref logo
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A Custom Targeted Next-Generation Sequencing Gene Panel for the Diagnosis of Genetic Nephropathies
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Niemann-Pick Disease Type C Diagnosed Using Neonatal Cholestasis Gene Panel
The Korean Journal of Gastroenterology. 2021;78(4):240-244   Crossref logo
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Validation of a targeted gene panel sequencing for the diagnosis of hereditary chronic liver diseases
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Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease
Clinical Biochemistry. 2016;49(1-2):166-171   Crossref logo
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A novel mutation in the ABCD1 gene of a Korean boy diagnosed with X-linked adrenoleukodystrophy
Gene. 2012;498(1):131-133   Crossref logo
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Eight cases of incidentally diagnosed as subclinical rickets
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12 Gene Pancreatitis Susceptibility Panel: Clinical Validation of a Targeted, High-Fidelity, Next Generation Sequencing Approach
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