Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.I192Splc
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G6PD

NM_000402.4:p.I192Splc

Associated Papers

Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants.

Geck RC et al.

American Journal of Human Genetics, 2023

36681081 (PubMed )
Supplement: mmc1.xlsx › Table_S1_variants

DALIA- a comprehensive resource of Disease Alleles in Arab population.

Vatsyayan A et al.

Plos One, 2021

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Xiang J et al.

Scientific Reports, 2020

31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1

Molecular characterization of glucose-6-phosphate dehydrogenase deficiency among Jordanians.

Al-Sweedan SA et al.

Acta Haematologica, 2012

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