Varaico: Literature-Extracted Genetic Variants

Gene:CHDH
Variant:p.E40A
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CHDH

NM_018397.5:p.E40A

Associated Papers

MTHFR 677C/T gene polymorphism and dietary habits: effects on trace element levels, amino acids, and biochemical parameters.

Orct T et al.

Frontiers in Nutrition, 2025

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

CHDH, a key mitochondrial enzyme, plays a diagnostic role in metabolic disorders diseases and tumor progression.

Li Y et al.

Frontiers in Genetics, 2023

Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.

Pape K et al.

Cancers, 2022

36291768 (PubMed )
Supplement: cancers-14-04984-s001.zip › Table_S2.xlsx › DD204

Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.

Greer C et al.

Human Reproduction (oxford, England), 2021

33417716 (PubMed )
Supplement: deaa347_supplementary_data.zip › Suppl_Table_SV_Neand_Shared_Extinct_Revised.pdf

Association of Genetic Variants with Hyperhomocysteinemia in Indian Patients with Thrombosis.

Paradkar MU et al.

Indian Journal of Clinical Biochemistry : Ijcb, 2020

The role of the folate pathway in pancreatic cancer risk.

Chittiboyina S et al.

Plos One, 2018

Genetic Variation in Choline-Metabolizing Enzymes Alters Choline Metabolism in Young Women Consuming Choline Intakes Meeting Current Recommendations.

Ganz AB et al.

International Journal of Molecular Sciences, 2017

The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Lim CH et al.

Oncotarget, 2016

27175599 (PubMed )
Supplement: oncotarget-07-39758-s006.xlsx › TableS5

The Genetic Architecture of Arsenic Metabolism Efficiency:A SNP-Based Heritability Study of Bangladeshi Adults.

Gao J et al.

Environmental Health Perspectives, 2015

Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Witkiewicz AK et al.

Nature Communications, 2015

25855536 (PubMed )
Supplement: ncomms7744-s2.xlsx › MUTATIONS_ALL_CASES

Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Szeto CY et al.

Febs Open Bio, 2014

24490137 (PubMed )
Supplement: mmc5.xlsx › all_info

Association of MTHFR and RFC1 gene polymorphism with hyperhomocysteinemia and its modulation by vitamin B12 and folic acid in an Indian population.

Sukla KK et al.

European Journal of Clinical Nutrition, 2012

Common variants of homocysteine metabolism pathway genes and risk of type 2 diabetes and related traits in Indians.

Chauhan G et al.

Experimental Diabetes Research, 2012

Polymorphisms in MTHFR, MS and CBS genes and homocysteine levels in a Pakistani population.

Yakub M et al.

Plos One, 2012

Cystathionine beta-synthase 844Ins68 polymorphism is not associated with the levels of homocysteine and cysteine in an Indian population.

Kumar J et al.

Biomarkers : Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals, 2010

Single nucleotide polymorphisms in homocysteine metabolism pathway genes: association of CHDH A119C and MTHFR C677T with hyperhomocysteinemia.

Kumar J et al.

Circulation. Cardiovascular Genetics, 2009

Arsenic metabolism is influenced by polymorphisms in genes involved in one-carbon metabolism and reduction reactions.

Schläwicke Engström K et al.

Mutation Research, 2009

Genomics of complex disorders I.

Unknown Author

Genomic Medicine, 2008

Common genetic polymorphisms affect the human requirement for the nutrient choline.

da Costa KA et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2006

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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."