rs869320624 in
EMC1-AS1;EMC1 gene and
Laryngotracheomalacia
PMID 27657687 2017 Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
PMID 26942288 2016 Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
rs527656756 in
MTA3;HAAO gene and
Laryngotracheomalacia
PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.