Varaico: Literature-Extracted Genetic Variants

Gene:GART
Variant:p.M577T
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GART

NM_000819.5:p.M577T

Associated Papers

Rare genetic variants and severe COVID-19 in previously healthy admixed Latin American adults.

Rocha GD et al.

Scientific Reports, 2025

40595275 (PubMed )
Supplement: 41598_2025_8416_MOESM1_ESM.xlsx › S4

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

The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Eckart M et al.

Pediatrics, 2012

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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."