Varaico: Literature-Extracted Genetic Variants

Gene:RIMS1
Variant:p.W1061*
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RIMS1

NM_014989.7:p.W1061*

Associated Papers

Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50.

Fliegauf M et al.

Frontiers in Immunology, 2022

36105815 (PubMed )
Supplement: DataSheet_1.pdf

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

Pizzo L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.

Griswold AJ et al.

Molecular Autism, 2015

26185613 (PubMed )
Supplement: 13229_2015_34_MOESM3_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."