Varaico: Literature-Extracted Genetic Variants

Gene:AMT
Variant:p.R318R
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AMT

NM_000481.4:p.R318R

Associated Papers

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.

Barretta F et al.

Genes, 2023

37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › CASE_REPORT___MITNGS22_03_

Clonal evolution patterns in acute myeloid leukemia with NPM1 mutation.

Cocciardi S et al.

Nature Communications, 2019

31048683 (PubMed )
Supplement: 41467_2019_9745_MOESM3_ESM.xlsx › Tabelle1

Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.

Narisawa A et al.

Human Molecular Genetics, 2012

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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."