Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.P150A
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CAPN3

NM_000070.3:p.P150A

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_MOESM2_ESM.xlsx › Tabellenblatt1

Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.

Krenn M et al.

European Journal of Neurology, 2022

35239206 (PubMed )
Supplement: ENE-29-1815-s001.xlsx › Supplementary_Table_2
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