Varaico: Literature-Extracted Genetic Variants

Gene:CHRNE
Variant:p.S163L
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CHRNE

NM_000080.4:p.S163L

Associated Papers

Assessing the Utility of ColabFold and AlphaMissense in Determining Missense Variant Pathogenicity for Congenital Myasthenic Syndromes.

Ryan-Phillips F et al.

Biomedicines, 2024

39595115 (PubMed )
Supplement: biomedicines-12-02549-s001.zip › AlphaMissense_vs_Alamut_and_EVE_Results.xlsx › Sheet1

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

NGS-Panel Diagnosis Developed for the Differential Diagnosis of Idiopathic Toe Walking and Its Application for the Investigation of Possible Genetic Causes for the Gait Anomaly.

Pomarino D et al.

Global Medical Genetics, 2023

Lessons of the month: A breathless severe asthmatic in the genomic era: Occam's razor or Hickam's dictum?

Venegas C et al.

Clinical Medicine (london, England), 2020

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.

Gonzalez-Quereda L et al.

Genes, 2020

32403337 (PubMed )
Supplement: genes-11-00539-s001.pdf

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20
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