Varaico: Literature-Extracted Genetic Variants

Gene:PRDM16
Variant:p.V562I
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PRDM16

NM_022114.4:p.V562I

Associated Papers

Goldenhar syndrome with limbal neoformation, microtia and skeletal deformities: a case report and literature review.

Fu Y et al.

Bmc Ophthalmology, 2024

Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.

Liu Y et al.

Molecular Cancer, 2023

37543594 (PubMed )
Supplement: 12943_2023_1828_MOESM2_ESM.xlsx › supplementaryTable_1B

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S2
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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."