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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PNKD

Variant:p.Q95*

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PNKD

NM_015488.5:p.Q95*

hg38:chr2:218339829 C>T

Associated Papers

Damaging novel mutations in PIGN cause developmental epileptic-dyskinetic encephalopathy: a case report.

Tian M et al.

Bmc Pediatrics, 2022

35468813 (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."