Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Nagaraj et al.	2009	Hum. Mol. Genet.	3822-3831	18 (20)	Pathogenic human L1-CAM mutations reduce the adhesion-dependent activation of EGFR	19617634

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Ig 3	Exon 8	c.925G>A	p.Glu309Lys	Missense	Disease-causing	Details
Fn 5	Exon 24	c.3209A>G	p.Tyr1070Cys	Missense	Disease-causing	Details

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