Varaico: Literature-Extracted Genetic Variants

Gene:ATAT1
Variant:p.V149_E150insFs
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ATAT1

NM_001413067.1:p.V149_E150insFs

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

Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II.

Pasternack SM et al.

The British Journal of Dermatology, 2009

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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."