Varaico: Literature-Extracted Genetic Variants

Gene:DMRT1
Variant:p.S45T
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DMRT1

NM_021951.3:p.S45T

Associated Papers

Novel gene variants in a rare case of SRY-negative 46, XX male syndrome with bone marrow failure by whole exome sequencing.

Zhang A et al.

Blood Science (baltimore, Md.), 2026

Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development.

Sproll P et al.

Molecular Genetics & Genomic Medicine, 2018

Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.

Wolff RK et al.

Genes, Chromosomes & Cancer, 2018

29575536 (PubMed )
Supplement: GCC-57-366-s004.xlsx › MSI

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › e__Freq_TP095

Pathway-based analysis of GWAs data identifies association of sex determination genes with susceptibility to testicular germ cell tumors.

Koster R et al.

Human Molecular Genetics, 2014

Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis.

Mello MP et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2010

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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."