Chrome Extension
WeChat Mini Program
Use on ChatGLM
VIPCreated with Sketch.

Recurrent, Founder and Hypomorphic Variants Contribute to the Genetic Landscape of Joubert Syndrome.

Valentina Serpieri, Giulia Mortarini,Hailey Loucks,Tommaso Biagini,Alessia Micalizzi,Ilaria Palmieri,Jennifer C. Dempsey,Fulvio D'Abrusco,Concetta Mazzotta,Roberta Battini,Enrico Silvio Bertini,Eugen Boltshauser,Renato Borgatti,Knut Brockmann,Stefano D'Arrigo,Nardo Nardocci,Rita Fischetto,Emanuele Agolini,Antonio Novelli,Alfonso Romano,Romina Romaniello,Franco Stanzial,Sabrina Signorini,Pietro Strisciuglio,Simone Gana,Tommaso Mazza,Dan Doherty,Enza Maria Valente

JOURNAL OF MEDICAL GENETICS（2023）

Cited 1|Views81
Key words
Founder Effect,Cerebellar Diseases,Gene Frequency,Genetic Carrier Screening,Genotype
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