Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.S761fs
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FLG

NM_002016.2:p.S761fs

Associated Papers

Skin microbiome composition and function in the development of atopic diseases during infancy.

Shen Z et al.

Biorxiv : the Preprint Server for Biology, 2025

Genetic Variant rs1801275 in Atopic Dermatitis: Prevalence and Clinical Implications in Vietnamese Population.

Nguyen THN et al.

Journal of Asthma and Allergy, 2025

Filaggrin loss-of-function variants are associated with atopic dermatitis phenotypes in a diverse, early-life prospective cohort.

Virolainen SJ et al.

Jci Insight, 2024

Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half.

Bar O et al.

International Journal of Molecular Sciences, 2024

38256266 (PubMed )
Supplement: ijms-25-01192-s001.zip › ijms-2816629-supplementary.xlsx › Table_S2

Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.

Berger SI et al.

Clinical Genetics, 2023

Relevance of Coding Variation in FLG And DOCK8 in Finnish Pediatric Patients with Early-Onset Moderate-To-Severe Atopic Dermatitis.

Perälä M et al.

Jid Innovations : Skin Science From Molecules to Population Health, 2023

Epidermal differentiation complex genetic variation in atopic dermatitis and peanut allergy.

Huffaker MF et al.

The Journal of Allergy and Clinical Immunology, 2023

Genetic associations of protein-coding variants in human disease.

Sun BB et al.

Nature, 2022

Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity.

Darbord D et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2022

Very Elevated IgE, Atopy, and Severe Infection: A Genomics-Based Diagnostic Approach to a Spectrum of Diseases.

Chin A et al.

Case Reports in Immunology, 2021

Filaggrin gene mutations with special reference to atopic dermatitis.

Gupta J et al.

Current Treatment Options in Allergy, 2020

Latent class analysis categorizes chronic hand eczema patients according to skin barrier impairment.

Tauber M et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020

Correlation of age-of-onset of Atopic Dermatitis with Filaggrin loss-of-function variant status.

Smieszek SP et al.

Scientific Reports, 2020

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Hou YC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

31980526 (PubMed )
Supplement: pnas.1909378117.sapp.pdf

Workflow for the Implementation of Precision Genomics in Healthcare.

Mehandziska S et al.

Frontiers in Genetics, 2020

32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases

Uncommon Filaggrin Variants Are Associated with Persistent Atopic Dermatitis in African Americans.

Margolis DJ et al.

The Journal of Investigative Dermatology, 2018

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.

Zarrei M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

28771244 (PubMed )
Supplement: gim201783x4.xlsx › de_novo

Exome Pool-Seq in neurodevelopmental disorders.

Popp B et al.

European Journal of Human Genetics : Ejhg, 2017

29158550 (PubMed )
Supplement: 41431_2017_22_MOESM7_ESM.xlsx › Cand_LOF_inhADaXaOther
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