ORIGINAL RESEARCH
Published on 17 Sep 2025
Genetic and in silico functional characterization of a novel structural variant in the PAH gene by long-reads sequencing and structural modeling
doi 10.3389/fgene.2025.1669007
- 1,082 views
- Frontiers in Molecular Biosciences
- Molecular Diagnostics and Therapeutics
- Research Topics
- Molecular Underpinnings of Genetic and Rare Diseases: From Diagnostic Tools to Therapeutic Approaches
Molecular Underpinnings of Genetic and Rare Diseases: From Diagnostic Tools to Therapeutic Approaches
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Articles
ORIGINAL RESEARCH
Published on 17 Jul 2025
Shaping national rare diseases definition in Saudi Arabia: outcome from health ecosystem multisectoral workshop
doi 10.3389/fphar.2025.1595967
- 1,159 views
ORIGINAL RESEARCH
Published on 11 Jul 2025
Two novel cases with PIGQ-CDG: expansion of the genotype–phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool
doi 10.3389/fgene.2025.1598602
- 1,274 views
REVIEW
Published on 24 Apr 2025
The oxidative-stress-senescence axis in keratoconus: new insights into corneal degeneration
doi 10.3389/fmolb.2025.1539542
- 2,054 views
- 2 citations
ORIGINAL RESEARCH
Published on 23 Apr 2025
Systematic use of protein free energy changes for classifying variants of uncertain significance: the case of IFT140 in Mainzer-Saldino Syndrome
doi 10.3389/fmolb.2025.1561380
- 1,304 views
