Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W
Crossref DOI link: https://doi.org/10.1186/s13578-017-0149-3
Published Online: 2017-04-26
Published Print: 2017-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Gao, Jackson
D’Souza, Leera
Wetherby, Keith
Antolik, Christian
Reeves, Melissa
Adams, David R.
Tumminia, Santa
Wang, Xinjing