Varaico: Literature-Extracted Genetic Variants

Gene:AICDA
Variant:p.L183P
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AICDA

NM_020661.4:p.L183P

Associated Papers

Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III.

Kumar SU et al.

Cell Biochemistry and Biophysics, 2021

Analysis of FOXO1 mutations in diffuse large B-cell lymphoma.

Trinh DL et al.

Blood, 2013

PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.

Bjursell C et al.

Human Mutation, 2000

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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."