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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DCHS2

Variant:p.T1358_T1359delFs

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DCHS2

NM_001358235.2:p.T1358_T1359delFs

hg38:chr4:154322431 GTGGT>G

Associated Papers

Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186.

Kvarnung M et al.

Frontiers in Genetics, 2019

31608123 (PubMed )

Supplement: Table_2.xlsx › Sheet1

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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."