Varaico: Literature-Extracted Genetic Variants

Gene:KRT17
Variant:p.L95P
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KRT17

NM_000422.3:p.L95P

Associated Papers

Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.

Muret K et al.

International Journal of Molecular Sciences, 2024

39408704 (PubMed )
Supplement: ijms-25-10374-s001.zip › ijms-3168929_Supplementary_Fig___Tables.pdf

ALA-iPDT for follicular occlusion tetrad concomitant with pachyonychia congenital type Ⅱ and ankylosing spondylitis.

Yan J et al.

Photodiagnosis and Photodynamic Therapy, 2022

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity.

Elango T et al.

Human Genomics, 2018

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

The molecular genetic analysis of the expanding pachyonychia congenita case collection.

Wilson NJ et al.

The British Journal of Dermatology, 2014

Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.

Terrinoni A et al.

The Journal of Investigative Dermatology, 2001

Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita.

Agarwala M et al.

Indian Journal of Dermatology, 0

Pachyonychia Congenita: Sporadic Onset with Mutation Analysis.

Athota K et al.

Indian Dermatology Online Journal, 0

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