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Mutation Direct

Effortless mutation search and display tool

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Gene: FKRP & Disease: MDDGA4, 2 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
430845	FKRP	c.679G>C	p.Ala227Pro (p.A227P)	NM_024301.5 M	SNV	P	1 +	1
430845	FKRP	c.679G>C	p.Ala227Pro (p.A227P)	NM_001039885.3	SNV	P	1 +	1

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