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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SDS

Variant:p.Q55_G56del1

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SDS

NM_006843.3:p.Q55_G56del1

hg38:chr12:113399137 GCCT>G

Associated Papers

Identification of POLR3B biallelic mutations-associated hypomyelinating leukodystrophy-8 in two siblings.

Yang F et al.

Clinical Genetics, 2023

36650939 (PubMed )

Supplement: supplement_1.docx

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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."