Varaico: Literature-Extracted Genetic Variants

Gene:PAFAH1B1
Variant:p.S4P
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PAFAH1B1

NM_000430.4:p.S4P

Associated Papers

Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report.

Nyaga DM et al.

Epilepsia Open, 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."