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Gene: EBF3 & Disease: PRBNS, 7 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
268156	EBF3	c.488G>A	p.Arg163Gln (p.R163Q)	NM_001375380.1 M	SNV	P	5 +	3
	EBF3	c.488G>A	p.Arg163Gln (p.R163Q)	NM_001005463.3	SNV	P	5 +	3
	EBF3	c.488G>A	p.Arg163Gln (p.R163Q)	NM_001375379.1	SNV	P	5 +	3
	EBF3	c.488G>A	p.Arg163Gln (p.R163Q)	NM_001375389.1	SNV	P	5 +	3
	EBF3	c.488G>A	p.Arg163Gln (p.R163Q)	NM_001375390.1	SNV	P	5 +	3
	EBF3	c.488G>A	p.Arg163Gln (p.R163Q)	NM_001375391.1	SNV	P	5 +	3
	EBF3	c.488G>A	p.Arg163Gln (p.R163Q)	NM_001375392.1	SNV	P	5 +	3

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