Varaico: Literature-Extracted Genetic Variants

Gene:HS6ST1
Variant:p.R375H
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HS6ST1

NM_004807.3:p.R375H

Associated Papers

Convergent biological pathways underlying the Kallmann syndrome-linked genes Hs6st1 and Fgfr1.

Moon S et al.

Human Molecular Genetics, 2022

Genetic Evaluation of Patients With Delayed Puberty and Congenital Hypogonadotropic Hypogonadism: Is it Worthy of Consideration?

Festa A et al.

Frontiers in Endocrinology, 2020

HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes.

Howard SR et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

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