Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Y.Zarate		Personal communication

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Fn 2	Exon 18	c.2219G>A	p.Trp740X	Nonsense	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	Unknown	c.2219G>A	p.Trp740X	Exon 18	Unknown