Varaico: Literature-Extracted Genetic Variants

Gene:CHRNE
Variant:p.S52S
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CHRNE

NM_000080.4:p.S52S

Associated Papers

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.

Müller JS et al.

Expert Reviews in Molecular Medicine, 2007

126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.

Beeson D et al.

Neuromuscular Disorders : Nmd, 2005

Congenital myasthenic syndromes: gene mutations.

Unknown Author

Neuromuscular Disorders : Nmd, 2003

Congenital myasthenic syndromes: gene mutations.

Unknown Author

Neuromuscular Disorders : Nmd, 2002

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