Varaico: Literature-Extracted Genetic Variants

Gene:SPOUT1
Variant:p.T353M
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SPOUT1

NM_016390.4:p.T353M

Associated Papers

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

Dharmadhikari AV et al.

Nature Communications, 2025

SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy.

Liu W et al.

Acta Epileptologica, 2024

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

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

Reuter MS et al.

Jama Psychiatry, 2017

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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."