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Gene: PRNP & Disease: UP-FTD, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
13397	PRNP	c.385A>G	p.Met129Val (p.M129V)	NM_000311.5 M	SNV	LB	10 +	37
	PRNP	c.385A>G	p.Met129Val (p.M129V)	NM_001080121.3	SNV	LB	10 +	37
	PRNP	c.385A>G	p.Met129Val (p.M129V)	NM_001080122.3	SNV	LB	10 +	37
	PRNP	c.385A>G	p.Met129Val (p.M129V)	NM_001080123.3	SNV	LB	10 +	37
	PRNP	c.*74A>G	--	NM_001271561.3	SNV	LB	10 +	37
	PRNP	c.385A>G	p.Met129Val (p.M129V)	NM_183079.4	SNV	LB	10 +	37

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