Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Basel-Vanagaite et al.	2006	Clin Genet	414-419	69	Expanding the phenotypic spectrum of L1CAM-associated disease	16650080

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Ig 3	Exon 7	c.719C>T	p.Pro240Leu	Missense	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	2	c.719C>T	p.Pro240Leu	Exon 7	(Dys)agenesis corpus callosum, Hirschsprung's disease	ACC: 2/2, HSCR 1/2, Limb abnormalities 1/2