Condition: Wolcott-Rallison syndrome
rs121908569
in
EIF2AK3
gene and
Wolcott-Rallison syndrome
PMID 10932183
2000 EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome.
PMID 26380986
2015 Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.