Varaico: Literature-Extracted Genetic Variants

Gene:HS6ST1
Variant:p.S405I
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HS6ST1

NM_004807.3:p.S405I

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

Germline Sequencing Identifies Rare Variants in Finnish Subjects with Familial Germ Cell Tumors.

Crowgey EL et al.

The Application of Clinical Genetics, 2020

Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Broutier L et al.

Nature Medicine, 2017

29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S1_HCC-1_coding_SNVs

Genomic and epigenomic analysis of high-risk prostate cancer reveals changes in hydroxymethylation and TET1.

Spans L et al.

Oncotarget, 2016

27014907 (PubMed )
Supplement: oncotarget-07-24326-s004.xlsx › Blad1

Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements.

Egan JB et al.

Plos One, 2014

24505276 (PubMed )
Supplement: pone.0087113.s004.xls › Table_S3
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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."