ORIGINAL RESEARCH
Published on 26 Aug 2025
Compound heterozygous missense and intronic variants in B9D1 contribute to a recurrent Meckel syndrome pedigree
doi 10.3389/fgene.2025.1663455
- 325 views
- 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 20 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
- 718 views
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
- 746 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
- 876 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
- 1,049 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
- 1,443 views
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