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Mutation Direct

Effortless mutation search and display tool

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Gene: ATP8B1 & Disease: PFIC2, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
7271	ATP8B1	c.208G>A	p.Asp70Asn (p.D70N)	NM_001374385.1 M	SNV	P	4 +	5
	ATP8B1	c.208G>A	p.Asp70Asn (p.D70N)	NM_005603.6	SNV	P	4 +	5
	ATP8B1	c.130-1893G>A	--	NM_001374386.1	SNV	P	4 +	5

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