CrossRef Text and Data Mining
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De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism
Jung-Eun Moon, Su-Jeong Lee, Suk-Hyun Park, Jinsup Kim, Dong-Kyu Jin, Cheol Woo Ko
Ann Pediatr Endocrinol Metab. 2018;23(2):107-111.   Published online June 20, 2018

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De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism
Annals of Pediatric Endocrinology & Metabolism. 2018;23(2):107-111   Crossref logo
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Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features
American Journal of Medical Genetics Part A. 2018;176(6):1423-1426   Crossref logo
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eP168: A de novo variant in AMOTL1 gene in an adult with craniofacial abnormalities and previously unreported congenital diaphragmatic hernia
Genetics in Medicine. 2022;24(3):S102   Crossref logo
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Novel de novo AVPR2 Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus
Case Reports in Nephrology and Dialysis. 2017;7(3):130-137   Crossref logo
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CORRIGENDUM FOR “A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness”
Journal of the Endocrine Society. 2020;4(6):   Crossref logo
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A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate
Molecular Genetics & Genomic Medicine. 2020;8(11):   Crossref logo
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SAT-350 A Tale of Two Mutations: Familial Hypocalciuric Hypercalcemia Caused by a Novel CaSR Start Codon Mutation Found in the Setting of a CaSR Hypercalciuric Variant
Journal of the Endocrine Society. 2020;4(Supplement_1):   Crossref logo
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Congenital Central Hypoventilation Syndrome Caused by A de novo RET Pathogenic Variant
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Evidence of involvement of a novel VUS variant in the CHKB gene to congenital muscular dystrophy affection
Meta Gene. 2020;24:100698   Crossref logo
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Identification of a Novel de Novo Variant in the SYT2 Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy
Genes. 2020;11(11):1238   Crossref logo