Varaico: Literature-Extracted Genetic Variants

Gene:DYNAP
Variant:p.I59M
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DYNAP

NM_173629.3:p.I59M

Associated Papers

Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.

Rus CM et al.

Orphanet Journal of Rare Diseases, 2022

DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population.

Park KJ et al.

Annals of Laboratory Medicine, 2016

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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."