PMID: 31636960

A novel porcine model reproduces human oculocutaneous albinism type II.

Cell discovery
Y Zhang, Q Hong, C Cao, L Yang, Y Li, T Hai, H Zhang, Q Zhou, R Sui, J Zhao
2019

3 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-28326942-C-T OCA2 c.79G>A p.Gly27Arg Missense 2/24 -
15-28116316-G-A OCA2 c.2228C>T p.Pro743Leu Missense 21/24 -
15-28116337-G-A OCA2 c.2207C>T p.Ser736Leu Missense 21/24 -