Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM3
Variant:p.R414Q
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SHROOM3

NM_020859.4:p.R414Q

Associated Papers

Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach.

Rai A et al.

American Journal of Human Genetics, 2025

Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia.

Zhu H et al.

Genome Research, 2025

40234029 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › S.Table_1

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A et al.

Nature Communications, 2019

31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM8_ESM.xlsx › Supplementary_Data_5
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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."