Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.E193K
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G6PD

NM_001360016.2:p.E193K

Associated Papers

Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.

Chetruengchai W et al.

Bmc Medical Genomics, 2024

Identification of a Novel Hb H Disease with Glucose-6-Phosphate Dehydrogenase Deficiency Using Whole Genome Sequencing.

Ren ZM et al.

Hemoglobin, 2022

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Lanillos J et al.

Npj Genomic Medicine, 2022

35181665 (PubMed )
Supplement: 41525_2022_283_MOESM4_ESM.xlsx › Novel_Previously_described_var.

Molecular classification of blood and bleeding disorder genes.

Baz B et al.

Npj Genomic Medicine, 2021

34272389 (PubMed )
Supplement: 41525_2021_228_MOESM1_ESM.pdf

Co-inheritance of Southeast Asian Ovalocytosis (SAO) and G6PD deficiency associated with acute hemolysis in a Thai patient.

Prayongratana K et al.

Blood Cells, Molecules & Diseases, 2019

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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."