36 Core list Coffin-Siris syndroom v1 (2016-03-17)
gen | ref seq | sequentie analyse | CNV analyse | repeatexpansie analyse | opmerkingen |
ARID1A | NM_006015.4 | ja | ja | nee | |
ARID1B | NM_020732.3 | ja | ja | nee | |
SMARCA2 | NM_003070.4 | ja | nee | nee | |
SMARCA4 | NM_001128849.1 | ja | nee | nee | |
SMARCB1 | NM_003073.3 | ja | nee | nee | |
SMARCE1 | NM_003079.4 | ja | nee | nee |