Varaico: Literature-Extracted Genetic Variants

Gene:ZNF30
Variant:p.L555F
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ZNF30

NM_194325.3:p.L555F

Associated Papers

An R307H substitution in GATA1 that prevents Ser310 phosphorylation causes severe fetal anemia.

Hetzer B et al.

Blood Advances, 2022

35580337 (PubMed )
Supplement: advancesADV2021006347-suppl2.xlsx › Tabelle1
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