Varaico: Literature-Extracted Genetic Variants

Gene:PIP
Variant:p.E119V
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PIP

NM_002652.3:p.E119V

Associated Papers

Constitutive opening of the Kv7.2 pore activation gate causes KCNQ2-developmental encephalopathy.

Nappi M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

39602259 (PubMed )
Supplement: pnas.2412388121.sapp.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."