Human Mutation - 2025

10 articles | Last updated: 2025-12-03 14:12:57

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Article Title	Cauc.		White		Euro.		Other		Phrases Used
Article Title	T	A	T	A	T	A	T	A	Phrases Used
Identification and Functional Characterization of a Novel PRPS1 Variant in X‐Linked Nonsyndromic Hearing Loss: Insights From Zebrafish and Cellular Models
De Novo <i>ACTB</i> Variant Associated With Juvenile‐Onset Temporal Lobe Epilepsy With Favorable Outcomes
Identification of Novel <i>USH2A</i> Mutations in a Consanguineous Chinese Family With Usher Syndrome							✓	✓	Chinese
Clinic Examination and Gene Diagnosis for a Birt–Hogg–Dubé Syndrome Family With a Novel <i>flcn</i> Frameshift Mutation Causing Nonsense‐Mediated mRNA Degradation
Whole Genome Sequencing of “Mutation‐Negative” Individuals With Cornelia de Lange Syndrome
Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti
Functional Analysis of Complex Structural and Splice‐Altering Variants in the <i>ARSB</i> Gene Towards the Personalized Antisense‐Based Therapy for Mucopolysaccharidosis Type VI Patients
Gene Mutation Characteristics and Prognostic Significance in Acute Myeloid Leukemia Patients From Northeast China		✓					✓	✓	Western populations; German–Austrian population; Caucasian population
A Novel Missense Variant of <i>BMPR1A</i> in Juvenile Polyposis Syndrome: Assessment of Structural and Functional Alternations
High Occurrence of a Missense Variant (c.471C>A) in the <i>FGF23</i> Gene Related to Hyperostosis–Hyperphosphatemia Syndrome With a Possible Founder Effect