Varaico: Literature-Extracted Genetic Variants

Gene:LDHD
Variant:p.E277Splc
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LDHD

NM_194436.3:p.E277Splc

Associated Papers

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3A

Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.

Westemeyer M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32366966 (PubMed )
Supplement: 41436_2020_807_MOESM1_ESM.docx

Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.

Dursun A et al.

Jimd Reports, 2011

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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."