Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

Uložené v:

Podrobná bibliografia
Vydané v:	Genetics in Medicine Ročník 23; s. 1912 - 1921
Hlavní autori:	Maria resa Te Carminho A. Rodrigues, Louise Bier, Chong Ae Kim, Charles Conlon, Jaehoon Jeong, Vimla Aggarwal, Joel Victor Fluss, Michelle Primiano, Halie J. May, Katherine W. Roche, Anya Revah-Politi, Anna Chassevent, Aida Telegrafi, Evan H. Baugh, Marwan Shinawi, Armand Bottani, Julia Rankin, David Goldstein, Julie S. Cohen, Yuri Uchiyama, Naomichi Matsumoto, Michel Guipponi, Samantha Toy, Richard E. Person, Julia Baptista, Kwame Anyane-Yeboa, Constance Smith-Hicks
Médium:	Journal Article
Jazyk:	Japanese
Vydavateľské údaje:	Elsevier BV 01.10.2021
Predmet:	Exome Sequencing HEK293 Cells Humans info:eu-repo/classification/ddc/576.5 info:eu-repo/classification/ddc/618 Nerve Tissue Proteins Nerve Tissue Proteins / genetics Neurodevelopmental Disorders Neurodevelopmental Disorders / genetics Neurons Phenotype
ISSN:	1098-3600
On-line prístup:	Získať plný text
Tagy:	Pridať tag Žiadne tagy, Buďte prvý, kto otaguje tento záznam!

Popis
ISSN:	1098-3600
DOI:	10.1038/s41436-021-01222-w