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Mutation Direct

Effortless mutation search and display tool

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Gene: ERCC2 & Disease: MLD, 2 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
134095	ERCC2	c.1703_1704del	p.Phe568fs (p.F568fs)	NM_000400.4 M	Del	P	5 +	7
523368	ERCC2	c.2080C>T	p.Pro694Ser (p.P694S)	NM_000400.4 M	SNV	LP	1 +	2

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