Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH1
Variant:p.I526T
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PLEKHH1

NM_020715.3:p.I526T

Associated Papers

Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.

Zhao S et al.

Nature Communications, 2023

37978175 (PubMed )
Supplement: 41467_2023_43062_MOESM5_ESM.xlsx › Sheet1
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