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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PODNL1

Variant:p.Q217_N218Splc

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PODNL1

NM_001370095.3:p.Q217_N218Splc

hg38:chr19:13934253 C>G

Associated Papers

Rare loss-of-function variants in matrisome genes are enriched in Ebstein's anomaly.

Zhou Z et al.

Hgg Advances, 2024

38006208 (PubMed )

Supplement: mmc1.pdf

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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."