Varaico: Literature-Extracted Genetic Variants

Gene:SHROOM3
Variant:p.V1054L
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SHROOM3

NM_020859.4:p.V1054L

Associated Papers

Pathogenic variants in SHROOM3 associated with hemifacial microsomia.

Li Q et al.

Journal of Human Genetics, 2025

Correction: Whole exome sequencing of high-risk neuroblastoma identifies novel non-synonymous variants.

Przybyła W et al.

Plos One, 2024

Whole exome sequencing of high-risk neuroblastoma identifies novel non-synonymous variants.

Przybyła W et al.

Plos One, 2022

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