HPS5
NM_181507.2:p.Q540*
Zheng S et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
Huizing M et al.
Human Mutation, 2020
Michaud V et al.
Pigment Cell & Melanoma Research, 2017
Stephen J et al.
Plos One, 2017
Khan AO et al.
Clinical Genetics, 2016