Publications:

A novel nicastrin mutation in a three-generation Dutch family with hidradenitis suppurativa: a search for functional significance.

Journal Of The European Academy Of Dermatology And Venereology : Jeadv

Vossen, A R J V ARJV; van Straalen, K R KR; Swagemakers, S M A SMA; de Klein, J E M M JEMM; Stubbs, A P AP; Venter, D J DJ; van der Zee, H H HH; van der Spek, P J PJ; Prens, E P EP

Publication Date: 2020-10

Variant appearance in text: PSEN1: 1287delG

PubMed Link: 32078194

Variant Present in the following documents:

• Main text
• JDV-34-2353.pdf

View BVdb publication page