Varaico: Literature-Extracted Genetic Variants

Gene:UCP1
Variant:p.T227I
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UCP1

NM_021833.5:p.T227I

Associated Papers

Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment.

Dhar S et al.

Scientific Reports, 2024

Whole-exome sequencing identifies multiple pathogenic variants in a large South Indian family with primary open-angle glaucoma.

Shah MH et al.

Indian Journal of Ophthalmology, 2021

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL1

Whole Exome Sequencing Reveals Rare Variants in Genes Associated with Metabolic Disorders in Women with PCOS.

Sharma P et al.

Journal of Human Reproductive Sciences, 0

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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."