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Founder Effect of the c.500G>A Variant in South Asian Patients With Inherited GPD1 Deficiency: Report on 16 Patients

Ishaq Malik1, Aaqib Zaffar Banday1, Abdus Sami Bhat1

  • 1Department of Pediatrics, Government Medical College, Srinagar, Kashmir, India.

American Journal of Medical Genetics. Part A
|March 17, 2026
PubMed
Abstract

Keywords:
GPD1founder effectgeneticsglycerol‐3‐phosphatehepatomegalyhypertriglyceridemiainfantmetabolic liver diseasenovel variant

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