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Mutation Direct

Effortless mutation search and display tool

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Gene: LOXL3 & Disease: Stickler Syndrome, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
624141	LOXL3	c.1330_1332del	p.Leu444Del (p.L444del)	NM_032603.5 M	Del	P	1 +	1
	LOXL3	c.895_897del	p.Leu299Del (p.L299del)	NM_001289164.3	Del	P	1 +	1
	LOXL3	c.247_249del	p.Leu83Del (p.L83del)	NM_001289165.2	Del	P	1 +	1

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