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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GTF2A1L

Variant:p.L180F

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GTF2A1L

NM_006872.5:p.L180F

hg38:chr2:48646602 C>T

Associated Papers

Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD).

Laemmle A et al.

Plos One, 2016

27070778 (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."