Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM3
Variant:p.M2R
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SHROOM3

NM_020859.4:p.M2R

Associated Papers

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

Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.

Tingaud-Sequeira A et al.

Journal of Medical Genetics, 2022

Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia.

Zhang YB et al.

Nature Communications, 2016

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