Varaico: Literature-Extracted Genetic Variants

Gene:P4HB
Variant:p.L59V
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P4HB

NM_000918.4:p.L59V

Associated Papers

Thyroglobulin gene mutations in congenital hypothyroidism.

Targovnik HM et al.

Hormone Research in Paediatrics, 2011

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

Targovnik HM et al.

Molecular and Cellular Endocrinology, 2010

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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."