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Mutation Direct

Effortless mutation search and display tool

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Gene: NOTCH1 & Disease: AOS, 2 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1279937	NOTCH1	c.4668G>A	p.Trp1556Ter (p.W1556X)	NM_017617.5 M	SNV	P	1 +	1
134914	NOTCH1	c.2263_2265del	p.Asn755Del (p.N755del)	NM_017617.5 M	Del	VUS	6 +	1

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