Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Michelson et al.	2002	Hum. Mutat.	481-482	20	Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons	12442287

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details
Ig 2	Exon 6	c.536T>G	p.Ile179Ser	Missense	Disease-causing	Details
Ig 2	Exon 6	c.550C>T	p.Arg184Trp	Missense	Disease-causing	Details
Ig 2	Exon 6	c.581A>G	p.Tyr194Cys	Missense	Disease-causing	Details
Ig 3	Exon 7	c.791G>A	p.Cys264Tyr	Missense	Disease-causing	Details

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