Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.D179_T186insFs
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ACTB

NM_001101.5:p.D179_T186insFs

Associated Papers

Functional analysis of PAX8 variants identified in patients with congenital hypothyroidism in situ.

Batjargal K et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022

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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."