Varaico: Literature-Extracted Genetic Variants

Gene:GART
Variant:p.E177D
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GART

NM_000819.5:p.E177D

Associated Papers

Resource: A compendium of HLA types and expression in pediatric cancer models.

Guan Y et al.

Iscience, 2025

41312385 (PubMed )
Supplement: mmc4.xlsx › S3.2_pVACsplice

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

Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

Marini NJ et al.

American Journal of Medical Genetics. Part A, 2019

31063268 (PubMed )
Supplement: AJMG-179-1260-s007.xlsx › Table_S4
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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."