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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PORCN

Variant:p.G270_A271delFs

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PORCN

NM_203475.3:p.G270_A271delFs

hg38:chrX:48514326 CGGGG>C

Associated Papers

Two female cases of focal dermal hypoplasia: One new case with a novel variant in PORCN (c.808_811delGGGG).

Liang Y et al.

The Journal of Dermatology, 2018

28012187 (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."