Varaico: Literature-Extracted Genetic Variants

Gene:HS6ST1
Variant:p.R185*
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HS6ST1

NM_004807.3:p.R185*

Associated Papers

Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese.

Chen H et al.

Biology of Sex Differences, 2024

Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann Syndrome.

Poch A et al.

Molecular and Cellular Endocrinology, 2024

Analysis of genetic alterations identifies the frequent mutation of GNAS in colorectal laterally spreading tumors.

Nong Y et al.

Cancer Communications (london, England), 2020

32762003 (PubMed )
Supplement: CAC2-40-636-s001.pdf

Tumor heterogeneity and acquired drug resistance in FGFR2-fusion-positive cholangiocarcinoma through rapid research autopsy.

Krook MA et al.

Cold Spring Harbor Molecular Case Studies, 2019

31371345 (PubMed )
Supplement: supp_mcs.a004002_Supplemental_S1.xlsx › Aorta_esophagus_lymph_node
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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."