Varaico: Literature-Extracted Genetic Variants

Gene:DBT
Variant:p.K427_A428Splc
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DBT

NM_001918.5:p.K427_A428Splc

Associated Papers

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Hyperleucinosis during infections in maple syrup urine disease post liver transplantation.

Guilder L et al.

Molecular Genetics and Metabolism Reports, 2021

Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

John SE et al.

Scientific Reports, 2018

Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).

Al-Jasmi FA et al.

Jimd Reports, 2016

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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."