WeChat Mini Program
Old Version Features

Broadening INPP5E Phenotypic Spectrum: Detection of Rare Variants in Syndromic and Non-Syndromic IRD

Riccardo Sangermano,Iris Deitch,Virginie G. Peter,Rola Ba-Abbad,Emily M. Place,Erin Zampaglione,Naomi E. Wagner,Anne B. Fulton,Luisa Coutinho-Santos,Boris Rosin,Vincent Dunet,Ala’a AlTalbishi,Eyal Banin,Ana Berta Sousa,Mariana Neves,Anna Larson,Mathieu Quinodoz,Michel Michaelides,Tamar Ben-Yosef,Eric A. Pierce,Carlo Rivolta,Andrew R. Webster,Gavin Arno,Dror Sharon,Rachel M. Huckfeldt,Kinga M. Bujakowska

npj Genomic Medicine（2021）

Cited 12|Views28
Key words
Disease genetics,Hereditary eye disease,Biomedicine,general,Human Genetics,Internal Medicine,Bioinformatics,Gene Therapy,Gene Function
AI Read Science
Must-Reading Tree
Example
Generate MRT to find the research sequence of this paper
Chat Paper
Summary is being generated by the instructions you defined