Condition: Congenital pontocerebellar hypoplasia type 7
rs371848318
in
MUTYH;TOE1
gene and
Congenital pontocerebellar hypoplasia type 7
PMID 28092684
2017 Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
rs368182654
in
TOE1
gene and
Congenital pontocerebellar hypoplasia type 7
PMID 28092684
2017 Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
rs148067486
in
TOE1;MUTYH
gene and
Congenital pontocerebellar hypoplasia type 7
PMID 28092684
2017 Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.