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Gene: RBBP8 & Disease: Seckel Syndrome, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
326223	RBBP8	c.927A>G	p.Ser309= (p.S309=)	NM_002894.3 M	SNV	LB	3 +	1
	RBBP8	c.927A>G	p.Ser309= (p.S309=)	NM_203291.2	SNV	LB	3 +	1
	RBBP8	c.927A>G	p.Ser309= (p.S309=)	NM_203292.2	SNV	LB	3 +	1

共3个结果, 每页展示20条

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