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Article

Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome.

Clinical genetics - 1 Jun 2017

Takahashi S, Matsufuji M, Yonee C, Tsuru H, Sano N, Oguni H

Abstract excerpt

A heterozygous SLC2A1 mutation in the severely affected child was inherited from his less severely affected mother who was mosaic for the mutation.

Read the complete abstract on PubMed

Topics

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Share to Carbohydrate Metabolism, Inborn Errors
Share to Genetic Counseling
Share to Glucose Transporter Type 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

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Source

Identifiers

PMID: 28124377
DOI: 10.1111/cge.12902

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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