Varaico: Literature-Extracted Genetic Variants

Gene:PORCN
Variant:p.Y245C
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PORCN

NM_022825.4:p.Y245C

Associated Papers

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

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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."