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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TPO

Variant:p.E399_T404del6

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TPO

NM_001206744.2:p.E399_T404del6

hg38:chr2:1477460 CGAGGTCCCCTCCCTGACG>C

Associated Papers

Neutral lipid storage disease with myopathy: clinicopathological and genetic features of nine Iranian patients.

Shahriyari H et al.

Neuromuscular Disorders : Nmd, 2024

38194732 (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."