Varaico: Literature-Extracted Genetic Variants

Gene:PORCN
Variant:p.Y245C
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PORCN

NM_203475.3:p.Y245C

Associated Papers

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

Yu J et al.

Journal of Cell Science, 2021

Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner.

Wawrocka A et al.

American Journal of Medical Genetics. Part A, 2021

The PORCN non-Goltz spectrum (PONGOS): A new group of genetic disorders.

Happle R

American Journal of Medical Genetics. Part A, 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."