Varaico: Literature-Extracted Genetic Variants

Gene:SPOUT1
Variant:p.R200W
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SPOUT1

NM_016390.4:p.R200W

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

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