Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Bateman et al.	1996	EMBO J.	6050-6059	15 No. 22	Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders.	8947027

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Ig 1	Exon 4	c.358C>G	p.Leu120Val	Missense	Unknown	Details

No patients specified