Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB7
Variant:p.G152fs
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SERPINB7

NM_003784.4:p.G152fs

Associated Papers

Two novel mutations of SERPINB7 in eight cases of Nagashima-type palmoplantar keratosis in the Chinese population.

Xiao T et al.

The Journal of Dermatology, 2022

Updated allele frequencies of SERPINB7 founder mutations in Asian patients with Nagashima-type palmoplantar keratosis/keratoderma.

Ito Y et al.

Journal of Dermatological Science, 2021

Nagashima-Type Palmoplantar Keratosis: Clinical Characteristics, Genetic Characterization, and Clinical Management.

Huang C et al.

Biomed Research International, 2021

33575348 (PubMed )
Supplement: 8841994.f1.zip › Supplement-Table_2__1_.docx

Identification of previously unknown SERPINB7 splice variants in patients with Nagashima-type palmoplantar keratosis reveals the importance of the CD-loop of SERPINB7.

Suzuki S et al.

The British Journal of Dermatology, 2015

Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.

Kubo A et al.

American Journal of Human Genetics, 2013

Nagashima-Type Palmoplantar Keratosis with Compound Heterozygous Mutations in SERPINB7.

Songsantiphap C et al.

Case Reports in Dermatology, 0

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