Varaico: Literature-Extracted Genetic Variants

Gene:PORCN
Variant:p.R370W
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PORCN

NM_203475.3:p.R370W

Associated Papers

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.

Dawidziuk M et al.

Genes, 2021

34946966 (PubMed )
Supplement: genes-12-02014-s001.zip › Supplementary_Table_S1_Patients_details.xlsx › Patients

Structural model of human PORCN illuminates disease-associated variants and drug-binding sites.

Yu J et al.

Journal of Cell Science, 2021

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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."