Varaico: Literature-Extracted Genetic Variants

Gene:SIN3A
Variant:p.R1104*
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SIN3A

NM_001145358.2:p.R1104*

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

Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.

Narumi-Kishimoto Y et al.

European Journal of Medical Genetics, 2019

Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Wang Y et al.

Frontiers in Oncology, 2019

30886832 (PubMed )
Supplement: Table_2.xls › Table_2

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

Witteveen JS et al.

Nature Genetics, 2016

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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."