Associated Papers
A Novel Variant in GLRA1 Associated With Emotional Stimulus-Sensitive Hemichoreic Movements.
Giuntini M et al.
American Journal of Medical Genetics. Part A, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 2022
35687490 (PubMed )
Supplement: advancesADV2021006654-suppl12.xlsx › Blad1
Excessive Startle with Novel GLRA1 Mutations in 4 Chinese Patients and a Literature Review of GLRA1-Related Hyperekplexia.
Zhan F et al.
Journal of Clinical Neurology (seoul, Korea), 2020
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