Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Kenwrick		?

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Fn 5	Exon 24	c.3201T>G	p.Tyr1067X	Nonsense	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	unknown	c.3201T>G	p.Tyr1067X	Exon 24	Unknown