Condition: INFANTILE LIVER FAILURE SYNDROME 2
rs140841721
in
NBAS
gene and
INFANTILE LIVER FAILURE SYNDROME 2
PMID 26073778
2015 Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
PMID 26286438
2015 NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.
PMID 28576691
2017 Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.