Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.G1787delFs
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FLG

NM_002016.2:p.G1787delFs

Associated Papers

Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.

Smyk M et al.

Genes, 2023

36980952 (PubMed )
Supplement: genes-14-00680-s001.zip › Supplementary_Table_S5.xlsx › Arkusz1

In silico analysis of the profilaggrin sequence indicates alterations in the stability, degradation route, and intracellular protein fate in filaggrin null mutation carriers.

Paul AA et al.

Frontiers in Molecular Biosciences, 2023

37200867 (PubMed )
Supplement: Table1.DOCX

Genetic susceptibility for cow's milk allergy in Dutch children: the start of the allergic march?

Henneman P et al.

Clinical and Translational Allergy, 2015

Filaggrin mutations associated with skin and allergic diseases.

Irvine AD et al.

The New England Journal of Medicine, 2011

Full sequencing of the FLG gene in Italian patients with atopic eczema: evidence of new mutations, but lack of an association.

Cascella R et al.

The Journal of Investigative Dermatology, 2011

Filaggrin gene defects and the risk of developing allergic disorders.

Osawa R et al.

Allergology International : Official Journal of the Japanese Society of Allergology, 2011

Novel and recurrent mutations in the filaggrin gene in Chinese patients with ichthyosis vulgaris.

Zhang X et al.

The British Journal of Dermatology, 2010

FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics.

Akiyama M

The British Journal of Dermatology, 2010

FLG mutation p.Lys4021X in the C-terminal imperfect filaggrin repeat in Japanese patients with atopic eczema.

Nemoto-Hasebe I et al.

The British Journal of Dermatology, 2009

Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup.

Oji V et al.

The British Journal of Dermatology, 2009

Eczema genetics: current state of knowledge and future goals.

Brown SJ et al.

The Journal of Investigative Dermatology, 2009

Filaggrin and the great epidermal barrier grief.

McGrath JA

The Australasian Journal of Dermatology, 2008

Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis.

Sandilands A et al.

The Journal of Investigative Dermatology, 2007

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.

Sandilands A et al.

Nature Genetics, 2007

Filaggrin Gene Mutation in Pediatric Patients with Atopic Dermatitis: A Look into Indian Gene Pool, a Pilot Study.

Rajeshwari KA et al.

Indian Journal of Dermatology, 0

Neonatal Filaggrin Genetic Screening and Counseling to Prevent Atopic Dermatitis in High-Risk Infants.

Chen HY et al.

Dermatitis : Contact, Atopic, Occupational, Drug, 0

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