Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.I3758_T3759del1
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SACS

NM_014363.6:p.I3758_T3759del1

Associated Papers

A Novel SACS Variant Identified in a Chinese Patient: Case Report and Review of the Literature.

Chen Y et al.

Frontiers in Neurology, 2022

Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.

Cheng HL et al.

Translational Neurodegeneration, 2021

The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.

Vural A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."