Varaico: Literature-Extracted Genetic Variants

Gene:ACTN2
Variant:p.E636A
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ACTN2

NM_001103.4:p.E636A

Associated Papers

AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.

Krenn M et al.

Journal of Neuromuscular Diseases, 2025

40910438 (PubMed )
Supplement: sj-xlsx-1-jnd-10.1177_22143602251370957.xlsx › Tabelle1

Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.

Krenn M et al.

Journal of Neurology, 2024

38127101 (PubMed )
Supplement: 415_2023_12101_MOESM3_ESM.xlsx › Tabellenblatt1
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