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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HS6ST1

Variant:p.R375R

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HS6ST1

NM_004807.3:p.R375R

hg38:chr2:128268273 G>A

Associated Papers

Spontaneous Improvement of Hypogonadotropic Hypogonadism in a Patient with PCSK1 and HS6ST1 Mutations: A Case Report.

Asgeirsson A et al.

Life (basel, Switzerland), 2025

40724652 (PubMed )

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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."