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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DCTN5

Variant:p.N33_V35Fs

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DCTN5

NM_032486.4:p.N33_V35Fs

hg38:chr16:23643004 ACATCGT>TCC

Associated Papers

[Maple Syrup Urine Disease in a newborn infant].

Mazur A et al.

Medycyna Wieku Rozwojowego, 0

17965467 (PubMed )

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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."