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Gene: PIBF1 & Disease: JBTS1, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
217688	PIBF1	c.1669del	p.Leu557fs (p.L557fs)	NM_006346.4 M	Del	LP	1 +	1
217689	PIBF1	c.1214G>A	p.Arg405Gln (p.R405Q)	NM_006346.4 M	SNV	P	2 +	1
217688	PIBF1	c.1756del	p.Leu586fs (p.L586fs)	NM_001349655.2	Del	LP	1 +	1
217689	PIBF1	c.1214G>A	p.Arg405Gln (p.R405Q)	NM_001349655.2	SNV	P	2 +	1

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