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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PORCN

Variant:p.H387Y

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PORCN

NM_203475.3:p.H387Y

hg38:chrX:48516132 C>T

Associated Papers

A Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features.

Akalın A et al.

Molecular Syndromology, 2024

38841326 (PubMed )

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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."