Varaico: Literature-Extracted Genetic Variants

Gene:COLQ
Variant:p.E157_K158insC
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COLQ

NM_005677.4:p.E157_K158insC

Associated Papers

COLQ-related congenital myasthenic syndrome: An integrative view.

Eshaghian T et al.

Neurogenetics, 2023

Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations.

Shao S et al.

Current Neuropharmacology, 2023

36703579 (PubMed )
Supplement: CN-21-1594_SD1.pdf
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