Varaico: Literature-Extracted Genetic Variants

Gene:SOBP
Variant:p.R661*
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SOBP

NM_018013.4:p.R661*

Associated Papers

Sobp modulates the transcriptional activation of Six1 target genes and is required during craniofacial development.

Tavares ALP et al.

Development (cambridge, England), 2021

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system.

Birk E et al.

American Journal of Human Genetics, 2010

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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."