Varaico: Literature-Extracted Genetic Variants

Gene:SIN3A
Variant:p.R935*
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SIN3A

NM_001145358.2:p.R935*

Associated Papers

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.

Balasubramanian M et al.

European Journal of Human Genetics : Ejhg, 2021

Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.

Suzuki H et al.

Nature, 2019

31664194 (PubMed )
Supplement: NIHMS1539056-supplement-2.xlsx › Supplementary_Table_5

High-risk follicular lymphomas harbour more somatic mutations including those in the AID-motif.

Tsukamoto T et al.

Scientific Reports, 2017

29070849 (PubMed )
Supplement: 41598_2017_14150_MOESM2_ESM.xlsx › Sheet1
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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."