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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCDH19

Variant:p.D558N

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PCDH19

NM_001184880.2:p.D558N

hg38:chrX:100406926 C>T

Associated Papers

Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.

Pham DH et al.

Human Mutation, 2021

34082468 (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."