Varaico: Literature-Extracted Genetic Variants

Gene:ATAT1
Variant:p.V177_P178insT
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ATAT1

NM_001413067.1:p.V177_P178insT

Associated Papers

The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III).

Beyzaei Z et al.

Orphanet Journal of Rare Diseases, 2022

Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome.

Soares DC et al.

Journal of Inherited Metabolic Disease, 2017

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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."