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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HS6ST1

Variant:p.F238L

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HS6ST1

NM_004807.3:p.F238L

hg38:chr2:128268684 G>T

Associated Papers

Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism.

Malone SA et al.

Elife, 2019

31291191 (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."