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Gene: ALPL & Disease: OSTEOP, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
974971	ALPL	c.94C>T	p.Gln32Ter (p.Q32X)	NM_000478.6 M	SNV	P	3 +	5
	ALPL	c.-72C>T	--	NM_001127501.4	SNV	P	3 +	5
	ALPL	c.-22C>T	--	NM_001177520.3	SNV	P	3 +	5
	ALPL	c.94C>T	p.Gln32Ter (p.Q32X)	NM_001369803.2	SNV	P	3 +	5
	ALPL	c.94C>T	p.Gln32Ter (p.Q32X)	NM_001369804.2	SNV	P	3 +	5
	ALPL	c.94C>T	p.Gln32Ter (p.Q32X)	NM_001369805.2	SNV	P	3 +	5

共6个结果, 每页展示20条

1

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