Varaico: Literature-Extracted Genetic Variants

Gene:MADCAM1
Variant:p.R292H
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MADCAM1

NM_130760.3:p.R292H

Associated Papers

Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling.

Nunes-Santos CJ et al.

Nature Communications, 2023

37349293 (PubMed )
Supplement: 41467_2023_39272_MOESM1_ESM.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 702.278
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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."