Varaico: Literature-Extracted Genetic Variants

Gene:DMXL2
Variant:p.S1288P
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DMXL2

NM_001378457.1:p.S1288P

Associated Papers

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.

Greer C et al.

Human Reproduction (oxford, England), 2021

33417716 (PubMed )
Supplement: deaa347_supplementary_data.zip › Suppl_Table_SV_Neand_Shared_Extinct_Revised.pdf

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › Feuil3

Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Ma S et al.

Oncotarget, 2017

Exome-based proteogenomics of HEK-293 human cell line: Coding genomic variants identified at the level of shotgun proteome.

Lobas AA et al.

Proteomics, 2016

Somatic Variations in Cervical Cancers in Indian Patients.

Das P et al.

Plos One, 2016

27829003 (PubMed )
Supplement: pone.0165878.s001.xlsx › somatic_cosmic_hit.list

Genetic studies of body mass index yield new insights for obesity biology.

Locke AE et al.

Nature, 2015

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