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Mutation Direct

Effortless mutation search and display tool

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Gene: PEX6 & Disease: PBD2B, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count
2430131	PEX6	c.1223_1225del	--	NM_000287.4 M	MS	LP	1 +
	PEX6	c.1220CCT[1]	p.Ser408Del (p.S408del)	NM_000287.4 M	MS	LP	1 +
	PEX6	c.956CCT[1]	p.Ser320Del (p.S320del)	NM_001316313.2	MS	LP	1 +

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