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Gene: AP4B1 & Disease: Congenital Nervous System Abnormality, 5 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
156414	AP4B1	c.1160_1161del	p.Thr387fs (p.T387fs)	NM_001253852.3 M	Del	P	3 +	8
	AP4B1	c.863_864del	p.Thr288fs (p.T288fs)	NM_001253853.3	Del	P	3 +	8
	AP4B1	c.656_657del	p.Thr219fs (p.T219fs)	NM_001308312.2	Del	P	3 +	8
	AP4B1	c.1160_1161del	p.Thr387fs (p.T387fs)	NM_006594.5	Del	P	3 +	8
	AP4B1	c.1160_1161delCA	--	NM_006594.5	Del	P	3 +	8

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