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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCDH19

Variant:p.P456L

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PCDH19

NM_001184880.2:p.P456L

hg38:chrX:100407231 G>A

Associated Papers

Inconsistencies between prenatal diagnostic and genetic testing laboratories on variant validation of rare monogenic diseases.

Lin L et al.

Prenatal Diagnosis, 2024

38898598 (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."