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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SHROOM3

Variant:p.R107C

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SHROOM3

NM_020859.4:p.R107C

hg38:chr4:76555759 C>T

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 )

Pathogenic variants in SHROOM3 associated with hemifacial microsomia.

Li Q et al.

Journal of Human Genetics, 2025

39875538 (PubMed )

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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."