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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATAT1

Variant:p.R148L

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ATAT1

NM_001413067.1:p.R148L

hg38:chr6:30628336 G>T

Associated Papers

Two novel pathogenic PDX1 variants in two Japanese patients with maturity-onset diabetes of the young.

Tanaka S et al.

Human Genome Variation, 2025

40379627 (PubMed )

Supplement: 41439_2025_312_MOESM1_ESM.docx

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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."