Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Cheng and Lemmon	2004	Mol. Cell. Neurosci.	522-530	27	Pathological missense mutations of neural cell adhesion molecule L1 affect neurite outgrowth and branching on an L1 substrate	15555929

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details
Ig 2	Exon 6	c.656T>C	p.Ile219Thr	Missense	Disease-causing	Details
Ig 3	Exon 8	c.925G>A	p.Glu309Lys	Missense	Disease-causing	Details
Ig 5	Exon 11	c.1277C>A	p.Ala426Asp	Missense	Disease-causing	Details
Ig 6	Exon 13	c.1624T>C	p.Ser542Pro	Missense	Likely disease-causing	Details
Ig 6	Exon 14	c.1792G>A	p.Asp598Asn	Missense	Disease-causing	Details

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