Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.R433Q
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TAT

NM_000353.3:p.R433Q

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

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.

Peña-Quintana L et al.

Clinical Genetics, 2017

Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations.

Charfeddine C et al.

Molecular Genetics and Metabolism, 2006

Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II.

Hühn R et al.

Human Genetics, 1998

Tyrosinemia type II (Richner-Hanhart syndrome): a new mutation in the TAT gene.

Culic V et al.

European Journal of Medical Genetics, 0

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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."