Varaico: Literature-Extracted Genetic Variants

Gene:NCSTN
Variant:p.V224_A228del0
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NCSTN

NM_015331.3:p.V224_A228del0

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_Table_S1.xlsx › Data

Genetic factors associated with hidradenitis suppurativa, a literature review.

Eble SM et al.

International Journal of Women's Dermatology, 2024

NCSTN In-Frame Deletion in Maltese Patients With Hidradenitis Suppurativa.

Mintoff D et al.

Jama Dermatology, 2023

Management of patients with hidradenitis suppurativa having underlying genetic variation: a systematic review and a call for precision medicine.

Mintoff D et al.

Clinical and Experimental Dermatology, 2023

A novel c.671_682del NCSTN variant in a family with hidradenitis suppurativa: a pilot study.

Mintoff D et al.

Clinical and Experimental Dermatology, 2021

An Updated Mutation Spectrum of the γ-Secretase Complex: Novel NCSTN Gene Mutation in an Indian Family with Hidradenitis Suppurativa and Acne Conglobata.

Ratnamala U et al.

Indian Journal of Dermatology, 0

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