Varaico: Literature-Extracted Genetic Variants

Gene:SH3D21
Variant:p.E733_V734Splc
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SH3D21

NM_001162530.2:p.E733_V734Splc

Associated Papers

Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis.

Barrell WB et al.

European Journal of Human Genetics : Ejhg, 2022

34719684 (PubMed )
Supplement: 41431_2021_988_MOESM1_ESM.xlsx › Variant
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