Publications:

Expanding the phenotypic spectrum in RDH12-associated retinal disease.

Cold Spring Harbor Molecular Case Studies

Scott, Hilary A HA; Place, Emily M EM; Ferenchak, Kevin K; Zampaglione, Erin E; Wagner, Naomi E NE; Chao, Katherine R KR; DiTroia, Stephanie P SP; Navarro-Gomez, Daniel D; Mukai, Shizuo S; Huckfeldt, Rachel M RM; Pierce, Eric A EA; Bujakowska, Kinga M KM

Publication Date: 2020-02

Variant appearance in text: ABCA4: 2088T>G; Ile696Met

PubMed Link: 32014858

Variant Present in the following documents:

• Main text
• supp_mcs.a004754_Supplemental_Material.pdf
• MCS004754Sco.pdf

View BVdb publication page