Varaico: Literature-Extracted Genetic Variants

Gene:COLQ
Variant:p.V318_I319Splc
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COLQ

NM_005677.4:p.V318_I319Splc

Associated Papers

Characterization of Novel Splicing Mutations and a Recurrent Deletion in COLQ Congenital Myasthenic Syndrome.

Liu Y et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025

Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.

Mishra S et al.

Clinical Dysmorphology, 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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