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Article

Expanding the mutational spectrum of<i>GCK</i>in Turkish pediatric population

2024-02-09

Abstract excerpt

Heterozygous loss-of-function variants in GCK cause persistent, mildly elevated plasma glucose beginning at birth. Recently, clinical phenotype created by deleterious variants in GCK is called GCK-MODY, although currently registered as “MODY, type 2” (maturity-onset diabetes of the young type 2, MODY2, MIM # 125851) in OMIM. The hyperglycemia of GCK-MODY is a benign and non-progressive condition, usually suspected...

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Literature Corpus work
560c20ad-5761-50ad-9168-fff19f9a7dad
DOI
10.1101/2024.02.07.24302418
Open publication

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Expanding the mutational spectrum of<i>GCK</i>in Turkish pediatric populationDOI 10.1101/2024.02.07.24302418
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