Varaico: Literature-Extracted Genetic Variants

Gene:ATAT1
Variant:p.L273P
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ATAT1

NM_001413067.1:p.L273P

Associated Papers

Protein-Protein Interfaces as Druggable Targets: A Common Motif of the Pyridoxal-5'-Phosphate-Dependent Enzymes to Receive the Coenzyme from Its Producers.

Aleshin VA et al.

Biochemistry. Biokhimiia, 2023

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

Beyzaei Z et al.

Orphanet Journal of Rare Diseases, 2022

Genetics and genomic medicine in Tunisia.

Elloumi-Zghal H et al.

Molecular Genetics & Genomic Medicine, 2018

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

Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome.

Bouyacoub Y et al.

Gene, 2013

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.

Romdhane L et al.

Orphanet Journal of Rare Diseases, 2012

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

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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."