TXNL4A, thioredoxin like 4A, 10907

N. diseases: 39; N. variants: 6
Disease: Choanal Atresia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		0.010 GeneticVariation disease BEFREE Hence, we identified causative recessive variants in TXNL4A in two individuals with BMKS as well as in three individuals (from two families) with isolated choanal atresia. 28905882 2017