Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.D292N
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PCDH19

NM_001184880.2:p.D292N

Associated Papers

Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial.

Kingsmore SF et al.

American Journal of Human Genetics, 2024

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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."