Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM3
Variant:p.R1170C
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SHROOM3

NM_020859.4:p.R1170C

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

Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?

Perez KKD et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36798250 (PubMed )
Supplement: media-1.xlsx › SuppTable2_VariantsOfInterest
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