Varaico: Literature-Extracted Genetic Variants

Gene:SPOUT1
Variant:p.T130R
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SPOUT1

NM_016390.4:p.T130R

Associated Papers

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.

Dharmadhikari AV et al.

Nature Communications, 2025

Natural History of Germline BRCA1 Mutated and BRCA Wild-type Triple-negative Breast Cancer.

Gardi N et al.

Cancer Research Communications, 2024

38315150 (PubMed )
Supplement: crc-23-0277-s13.xlsx › Sheet1

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.

Dharmadhikari AV et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 2022

35768426 (PubMed )
Supplement: 41531_2022_346_MOESM2_ESM.xlsx › SupTab1

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-BH-A0E2-01A.domain
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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."