Case Report
Published on 24 Apr 2019
Familial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1
in Pediatric Immunology
Frontiers in Pediatrics
doi 10.3389/fped.2019.00139
- 4,327 views
- 19 citations
196 articles related to "Novel Variant"
Articles
Original Research
Published on 11 Dec 2023
Isolation and genomic characteristics of the novel variant infectious bursal disease virus in China
in Veterinary Infectious Diseases
Frontiers in Veterinary Science
doi 10.3389/fvets.2023.1314903
- 4,003 views
- 5 citations
Original Research
Published on 11 Jan 2023
The impact of cross-reactive immunity on the emergence of SARS-CoV-2 variants
in Viral Immunology
Frontiers in Immunology
doi 10.3389/fimmu.2022.1049458
- 5,533 views
- 15 citations
Original Research
Published on 12 May 2021
Identification of a Novel Variant in MT-CO3 Causing MELAS
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2021.638749
- 6,272 views
- 7 citations
Brief Research Report
Published on 30 Aug 2022
Identification of a novel variant in N-cadherin associated with dilated cardiomyopathy
in Precision Medicine
Frontiers in Medicine
doi 10.3389/fmed.2022.944950
- 5,480 views
- 5 citations
Brief Research Report
Published on 11 Feb 2022
A Novel Variant of the CHD2 Gene Associated With Developmental Delay and Myoclonic Epilepsy
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.761178
- 7,379 views
- 8 citations
Original Research
Published on 17 Mar 2023
Characterization and pathogenicity of a novel variant infectious bursal disease virus in China
in Virology
Frontiers in Microbiology
doi 10.3389/fmicb.2022.1039259
- 41,588 views
- 21 citations
Original Research
Published on 16 Nov 2020
A Novel Variant in CLCN7 Regulates the Coupling of Angiogenesis and Osteogenesis
in Molecular and Cellular Pathology
Frontiers in Cell and Developmental Biology
doi 10.3389/fcell.2020.599826
- 4,511 views
- 5 citations
Original Research
Published on 07 Jan 2026
A novel variant in SIAH1 associated with autosomal dominant Buratti-Harel syndrome
in Neurodevelopment
Frontiers in Neuroscience
doi 10.3389/fnins.2025.1677646
- 945 views
Original Research
Published on 01 Jul 2022
Novel Variant Expands the Clinical Spectrum of CUX2-Associated Developmental and Epileptic Encephalopathies
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.808181
- 4,863 views
- 7 citations
Original Research
Published on 12 Jun 2025
Identification of a novel AGO2 variant causing LESKRES in a Chinese family with intellectual disability
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2025.1598462
- 2,412 views
- 1 citation
Case Report
Published on 17 Jun 2022
Case Report: A Novel EIF2B3 Pathogenic Variant in Central Nervous System Hypomyelination/Vanishing White Matter
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.893057
- 2,887 views
- 1 citation
Case Report
Published on 17 Jan 2019
Novel Variant of the Androgen Receptor Gene in a Patient With Complete Androgen Insensitivity Syndrome and Polyorchidism
in Reproduction
Frontiers in Endocrinology
doi 10.3389/fendo.2018.00795
- 4,202 views
Brief Research Report
Published on 05 Feb 2026
A novel variant c.A527G in ITGB4 leads to autosomal dominant epidermolysis bullosa in China
in Dermatology
Frontiers in Medicine
doi 10.3389/fmed.2025.1726208
- 459 views
Case Report
Published on 23 Apr 2018
A Novel Variant in ABCD1 Gene Presenting as Adolescent-Onset Atypical Adrenomyeloneuropathy With Spastic Ataxia
in Neurodegeneration
Frontiers in Neurology
doi 10.3389/fneur.2018.00271
- 3,658 views
- 5 citations
Case Report
Published on 12 Dec 2022
Case report: A novel variant in SLC25A46 causing sensorimotor polyneuropathy and optic atrophy
in Neuromuscular Disorders and Peripheral Neuropathies
Frontiers in Neurology
doi 10.3389/fneur.2022.1066040
- 3,146 views
- 8 citations