Varaico: Literature-Extracted Genetic Variants

Gene:DMBX1
Variant:p.R123W
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DMBX1

NM_147192.4:p.R123W

Associated Papers

Arab founder variants: Contributions to clinical genomics and precision medicine.

AlAbdi L et al.

Med (new York, N.y.), 2025

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1

Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.

Maddirevula S et al.

Frontiers in Genetics, 2020

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Alazami AM et al.

Cell Reports, 2015

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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."