Varaico: Literature-Extracted Genetic Variants

Gene:TAT
Variant:p.R417Q
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TAT

NM_000353.3:p.R417Q

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

Identification of the cofilin-binding sites in the large cytoplasmic domain of Na,K-ATPase.

Kim M et al.

Biochimie, 2002

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."