Skip to content
DraconiticResearch
Search Sources API
190,860 studies31 sourcesUpdated 39 min ago
Peer-reviewedCC BYFrontiers in bioinformatics

Characteristics of predicated pathogenic missense variants in human genes for Mendelian disorders

  1. 1Department of Biomedical Engineering, University of Florida , , ,
  2. 2Department of Biology, University of Florida , , ,

Related

  1. A refined sticker-spacer grammar marks disordered regions with interpretable pathogenic missense variation
    G. E. Remo, G. A. Andaverde, K. A. Lewis +2
    bioRxivPreprintCC BYFull textBiophysicsbioRxiv
  2. Gut microbiota in genetic diseases: from Mendelian disorders to complex traits
    Guanjun Chen, Junrong Li, Tianjun Huang +4
    Frontiers in immunologyPeer-reviewedCC BYFull textMolecular biology & gene regulationEurope PMCCrossref
  3. Molecular context of pathogenic variants is associated with phenotype and treatment response in SCN8A-related disorders
    J. Hack, J. C. Watkins, M. Hammer
    bioRxivPreprintCC BY-NCFull textMolecular biology & gene regulationbioRxiv
  4. Integrating Mendelian randomization with single-cell and spatial transcriptomics to investigate gut microbiota-associated genetic signals and molecular characteristics in prostate cancer.
    Chenjie Qiu, Huilin Zhang, Zongmin Du +2
    Frontiers in cellular and infection microbiologyPeer-reviewedCC BYFull textMolecular biology & gene regulationEurope PMC
  5. Clinical and genetic characteristics of patients with disorders of sex development in a large unselected cohort of China
    Hao Yang, Hu Lin, Hongjuan Tian +29
    Scientific ReportsPeer-reviewedCC BY-NC-ND 4.0Full textMolecular biology & gene regulationCrossref
BibTeX
@article{song2026characteristics,
  title = {{Characteristics of predicated pathogenic missense variants in human genes for Mendelian disorders}},
  author = {Ruocen Song and Xiaofei Bai and Xiao Fan},
  journal = {Frontiers in bioinformatics},
  year = {2026},
  month = oct,
  url = {https://europepmc.org/article/PMC/PMC13662176},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Characteristics of predicated pathogenic missense variants in human genes for Mendelian disorders
AU  - Ruocen Song
AU  - Xiaofei Bai
AU  - Xiao Fan
PY  - 2026
DA  - 2026/10/16
JO  - Frontiers in bioinformatics
UR  - https://europepmc.org/article/PMC/PMC13662176
SN  - 2673-7647
ER  -