Varaico: Literature-Extracted Genetic Variants

Gene:HS3ST6
Variant:p.P114insFs
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HS3ST6

NM_001009606.4:p.P114insFs

Associated Papers

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s009.xlsx › Blad1

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.

Zarrei M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

28771244 (PubMed )
Supplement: gim201783x4.xlsx › de_novo
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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."