Associated Papers
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.
Tinker RJ et al.
American Journal of Ophthalmology, 2025
40780579 (PubMed )
Supplement: NIHMS2116078-supplement-Supplementary_Material.pdf
Novel CHRNA3 variants identified in a patient with bladder dysfunction, dysautonomia, and gastrointestinal dysmotility.
Anand A et al.
American Journal of Medical Genetics. Part A, 2024
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_7_VUS
Disconnected Cardiac Autonomic Nerves in Genetic Ganglionic Acetylcholine Receptor Alpha-3 Subunit Deficiency.
Heusser K et al.
Hypertension (dallas, Tex. : 1979), 2023
Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants.
Shibao CA et al.
Neurology, 2021
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