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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SDS

Variant:p.L99fs

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SDS

NM_006843.3:p.L99fs

hg38:chr12:113398745 GAG>N

Associated Papers

Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.

Carapancea E et al.

Neurology, 2023

36599696 (PubMed )

Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?

Gruber LM et al.

Endocrine Oncology (bristol, England), 2023

37434649 (PubMed )

Supplement: supplementary_table_1.xlsx › Truncating_Variants

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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."