Varaico: Literature-Extracted Genetic Variants

Gene:ALAS2
Variant:p.R479Q
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ALAS2

NM_000032.5:p.R479Q

Associated Papers

Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release.

Bailey HJ et al.

Nature Communications, 2020

32499479 (PubMed )
Supplement: 41467_2020_16586_MOESM1_ESM.docx

Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach.

Kedar PS et al.

International Journal of Hematology, 2019

Concomitant a novel ALAS2 mutation and GATA1 mutation in a newborn: a case report and review of the literature.

Doshi BS et al.

American Journal of Blood Research, 2014

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