Varaico: Literature-Extracted Genetic Variants

Gene:SAMD9L
Variant:p.T832insFs
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SAMD9L

NM_152703.5:p.T832insFs

Associated Papers

Spinocerebellar ataxia type 49 presenting with ataxia, early onset dystonia, and bradykinesia in an Indian female patient.

Garg D et al.

Parkinsonism & Related Disorders, 2025

Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.

Molteni E et al.

Blood, 2023

37216690 (PubMed )
Supplement: BLOOD_BLD-2022-019304-mmc1.pdf
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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."