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Gene: PAICS & Disease: PAICSD, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1686821	PAICS	c.158A>G	p.Lys53Arg (p.K53R)	NM_001079524.2 M	SNV	P	1 +	1
	PAICS	c.158A>G	p.Lys53Arg (p.K53R)	NM_001079525.2	SNV	P	1 +	1
	PAICS	c.1304A>G	p.Lys435Arg (p.K435R)	NM_001392010.1	SNV	P	1 +	1
	PAICS	c.1220A>G	p.Lys407Arg (p.K407R)	NM_001392011.1	SNV	P	1 +	1
	PAICS	c.785A>G	p.Lys262Arg (p.K262R)	NM_001392012.1	SNV	P	1 +	1
	PAICS	c.158A>G	p.Lys53Arg (p.K53R)	NM_006452.4	SNV	P	1 +	1

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