Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1S
Variant:p.Q1326*
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CACNA1S

NM_000069.3:p.Q1326*

Associated Papers

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.

Juntas Morales R et al.

Genes, 2021

34440373 (PubMed )
Supplement: genes-12-01199-s001.zip › MORALES_et_al.__Supplemental_table_2.pdf
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