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Mutation Direct

Effortless mutation search and display tool

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Gene: PRKN & Disease: LPRS2, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
7050	PRKN	c.823C>T	p.Arg275Trp (p.R275W)	NM_004562.3 M	SNV	P	5 +	48
	PRKN	c.739C>T	p.Arg247Trp (p.R247W)	NM_013987.3	SNV	P	5 +	48
	PRKN	c.376C>T	p.Arg126Trp (p.R126W)	NM_013988.3	SNV	P	5 +	48

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