Varaico: Literature-Extracted Genetic Variants

Gene:KRT6B
Variant:p.N172del1
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KRT6B

NM_005555.4:p.N172del1

Associated Papers

Next-generation variant exon screening: Moving forward in routine genetic disease investigations.

Wang C et al.

Genetics in Medicine Open, 2024

39669605 (PubMed )
Supplement: mmc1.pdf

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

Wilson NJ et al.

The British Journal of Dermatology, 2014

A novel mutation in K6b in pachyonychia congenita type 2.

Sharma VM et al.

The Journal of Investigative Dermatology, 2007

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