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Mutation Direct

Effortless mutation search and display tool

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Gene: MFN2 & Disease: BWS, 2 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2276	MFN2	c.280C>T	p.Arg94Trp (p.R94W)	NM_014874.4 M	SNV	P	8 +	31
2276	MFN2	c.280C>T	p.Arg94Trp (p.R94W)	NM_001127660.2	SNV	P	8 +	31

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