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Mutation Direct

Effortless mutation search and display tool

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Gene: ATP1A3 & Disease: Epicanthus, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
161122	ATP1A3	c.410C>T	p.Ser137Phe (p.S137F)	NM_152296.5 M	SNV	P	4 +	3
	ATP1A3	c.443C>T	p.Ser148Phe (p.S148F)	NM_001256213.2	SNV	P	4 +	3
	ATP1A3	c.449C>T	p.Ser150Phe (p.S150F)	NM_001256214.2	SNV	P	4 +	3

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