Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.R1884C
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SPG11

NM_025137.4:p.R1884C

Associated Papers

Short-Communication: Variable Expression of Clinical Symptoms and an Unexpected Finding of Vacuolar Myopathy Related to a Pathogenic Variant in the CACNA1S Gene in a Previous Case Report.

Benítez-Alonso EO et al.

Cureus, 2022

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