Varaico: Literature-Extracted Genetic Variants

Gene:SACS
Variant:p.P1947R
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SACS

NM_014363.6:p.P1947R

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

34663476 (PubMed )
Supplement: 40035_2021_264_MOESM4_ESM.xlsx › Table_S2
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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."