ORIGINAL RESEARCH
Accepted on 05 Aug 2025
Unraveling the Pathogenicity Role of the Novel Compound Heterozygous Mutations of MED25 Gene in a Chinese Patient with BVSYS
doi 10.3389/fgene.2025.1654336
- 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
BRIEF RESEARCH REPORT
Published on 09 Jul 2025
Identification of a PATL2 missense variant (c.877G>T) disrupting canonical splicing and contributing to female infertility
doi 10.3389/fgene.2025.1611138
- 654 views
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
- 775 views
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
- 962 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
- 1,303 views
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