Varaico: Literature-Extracted Genetic Variants

Gene:IGSF3
Variant:p.W575R
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IGSF3

NM_001007237.3:p.W575R

Associated Papers

CHEK1 variant is a risk factor for premature ovarian insufficiency by mis- regulating metabolism and inflammation-related genes.

Guo J et al.

Human Genomics, 2025

40533835 (PubMed )
Supplement: 40246_2025_774_MOESM4_ESM.xlsx › Sheet1

In utero tumor development and identification of CTNNB1 mutation in a newborn case of ossifying renal tumor of infancy.

Kasai S et al.

Pediatric Blood & Cancer, 2024

38217079 (PubMed )
Supplement: supplement_1.xlsx › SNVs

A Novel Mutation in the ADAMTS10 Associated with Weil-Marchesani Syndrome with a Unique Presentation of Developed Membranes Causing Severe Stenosis of the Supra Pulmonic, Supramitral, and Subaortic Areas in the Heart.

Levitas A et al.

International Journal of Molecular Sciences, 2023

37240210 (PubMed )
Supplement: ijms-24-08864-s001.zip › ijms-2375138-supplementary.pdf

Tumor mutation burden and recurrent tumors in hereditary lung cancer.

Hsu YC et al.

Cancer Medicine, 2019

30941903 (PubMed )
Supplement: CAM4-8-2179-s001.xlsx › S2

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › CHP212

Sacral agenesis: a pilot whole exome sequencing and copy number study.

Porsch RM et al.

Bmc Medical Genetics, 2016

28007035 (PubMed )
Supplement: 12881_2016_359_MOESM2_ESM.xlsx › variants_in_all_cases

Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Chang H et al.

Plos One, 2011

21701589 (PubMed )
Supplement: pone.0021097.s002.xls › rd1_f40r3
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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."