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Gene: MRPS34 & Disease: LS, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
430586	MRPS34	c.321+1G>T	--	NM_023936.2 M	SNV	P	2 +	2
430586	MRPS34	c.321+1G>T	--	NM_001300900.2	SNV	P	2 +	2
430585	MRPS34	c.37G>A	p.Glu13Lys (p.E13K)	NM_023936.2 M	SNV	P	2 +	1
430585	MRPS34	c.37G>A	p.Glu13Lys (p.E13K)	NM_001300900.2	SNV	P	2 +	1

共4个结果, 每页展示20条

1

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