Condition: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44


rs114925667 in NPHP3-ACAD11;UBA5 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 PMID 27545681 2016 Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.

PMID 27545674 2016 Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.

rs532178791 in UBA5;NPHP3-ACAD11 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 PMID 27545681 2016 Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.

PMID 27545674 2016 Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.