Condition: Cerebellar Hypoplasia
rs184953805
in
ATRIP;TREX1;ATRIP-TREX1
gene and
Cerebellar Hypoplasia
PMID 26938784
2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs78300695
in
TREX1;ATRIP-TREX1;ATRIP
gene and
Cerebellar Hypoplasia
PMID 26938784
2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.