Additional file 1 of CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants

Autor:	Higa, Leigh Ann, Wardley, Jennifer, Wardley, Christopher, Singh, Susan, Foster, Timothy, Shen, Joseph J.
Rok vydání:	2021
DOI:	10.6084/m9.figshare.14992969
Popis:	Additional file 1. Supplemental Clinical Information for Families 2 through 13
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1522b656b0dfb59a955d6c87453d2c63 Zobrazit plný text záznamu