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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDIA4

Variant:p.E159Splc

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PDIA4

NM_004911.5:p.E159Splc

hg38:chr7:149015045 G>C

Associated Papers

Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations.

Targovnik HM et al.

Molecular and Cellular Endocrinology, 2010

20093166 (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."