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Article

3'-UTR SNP rs2229611 in G6PC1 affects mRNA stability, expression and Glycogen Storage Disease type-Ia risk.

Clinica chimica acta; international journal of clinical chemistry - 1 Aug 2017

Karthi Sellamuthu, Rajeshwari Mohan, Francis Amirtharaj, Saravanan Matheshwaran, Varalakshmi Perumal, Houlden Henry, Thangaraj Kumarasamy, Ashokkumar Balasubramaniem

Abstract excerpt

The frequency of rs2229611, previously reported in Chinese, Caucasians, Japanese and Hispanics, was investigated for the first time in Indian ethnicity. We analyzed its role in the progression of Glycogen Storage Disease type-Ia (GSD-Ia) and breast cancer. Genotype data on rs2229611 revealed that the risk of GSD-Ia was higher (P=0.0195) with CC compared to TT/TC genotypes, whereas no such correlation was observed...

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PMID: 28502559
DOI: 10.1016/j.cca.2017.05.016

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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