Varaico: Literature-Extracted Genetic Variants

Gene:CHRNB1
Variant:p.P271L
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CHRNB1

NM_000747.3:p.P271L

Associated Papers

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.

Kurtovic-Kozaric A et al.

Frontiers in Genetics, 2024

39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1

A novel fast-channel myasthenia caused by mutation in β subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gating.

Shen XM et al.

Experimental Neurology, 2020

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