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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDE4D

Variant:p.E684G

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PDE4D

NM_001104631.2:p.E684G

hg38:chr5:58975043 T>C

Associated Papers

Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.

Sirchia F et al.

Pediatric Neurology, 2026

41619469 (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."