Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA4
Variant:p.P111Q
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PLEKHA4

NM_020904.3:p.P111Q

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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