Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Jouet et al.	1993b	Nat. Genet.	331	4	A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)	8401576

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Ig 3	Exon 7	c.791G>A	p.Cys264Tyr	Missense	Disease-causing	Details

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