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.