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Gene: GARIN5A & Disease: NEDDFAS, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1320121	GARIN5A	c.-226G>A	--	NM_001308429.2 M	SNV	LP	1 +	1
1704220	GARIN5A	c.-220del	--	NM_001308429.2 M	Del	P	1 +	1
1320121	GARIN5A	c.-226G>A	--	NM_138411.3	SNV	LP	1 +	1
1704220	GARIN5A	c.-220del	--	NM_138411.3	Del	P	1 +	1

共4个结果, 每页展示20条

1

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