Varaico: Literature-Extracted Genetic Variants

Gene:SPEN
Variant:p.R1416C
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SPEN

NM_015001.3:p.R1416C

Associated Papers

Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.

Viggiano M et al.

Npj Genomic Medicine, 2024

38519481 (PubMed )
Supplement: 41525_2024_411_MOESM1_ESM.pdf

Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.

Yang X et al.

Bmc Medicine, 2024

38281914 (PubMed )
Supplement: 12916_2024_3257_MOESM1_ESM.xlsx › Table_S4

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM5_ESM.xlsx › Supplementary_Data_3
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