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Gene: CLN5 & Disease: PCH2D, 2 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
638521	CLN5	c.208T>C	p.Cys70Arg (p.C70R)	NM_006493.4 M	SNV	LP	2 +	1
638521	CLN5	c.208T>C	p.Cys70Arg (p.C70R)	NM_001366624.2	SNV	LP	2 +	1

共2个结果, 每页展示20条

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