Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex
Kato, Kohji, Oka, Yasuyoshi, Muramatsu, Hideki, Vasilev, Filipp F, Otomo, Takanobu, Oishi, Hisashi, Kawano, Yoshihiko, Kidokoro, Hiroyuki, Nakazawa, Yuka, Ogi, Tomoo, Takahashi, Yoshiyuki, Saitoh, ShiJournal:
Journal of Medical Genetics
DOI:
10.1136/jmedgenet-2019-106213
Date:
November, 2019
File:
PDF, 3.33 MB
2019