ORIGINAL RESEARCH
Published on 10 Jun 2025
Silent but significant: Functional elucidation of a synonymous ATP7B mutation in Wilson’s disease pedigrees
doi 10.3389/fgene.2025.1604683
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- Frontiers in Genetics
- Statistical Genetics and Methodology
- Research Topics
- Functional Study of Novel VUS (Variant of Uncertain Significance) Mutations in Single-gene Inherited Disease, Volume II
Functional Study of Novel VUS (Variant of Uncertain Significance) Mutations in Single-gene Inherited Disease, Volume II
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Articles
ORIGINAL RESEARCH
Published on 12 May 2025
Identification of a novel missense variant in the LMX1B gene associated with nail-patella syndrome in a Chinese family
doi 10.3389/fgene.2025.1574076
- 775 views
ORIGINAL RESEARCH
Published on 09 May 2025
A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis
doi 10.3389/fgene.2025.1572487
- 881 views
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