Varaico: Literature-Extracted Genetic Variants

Gene:GATA1
Variant:p.P385S
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GATA1

NM_002049.4:p.P385S

Associated Papers

Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid.

Pentsova EI et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2016

27161972 (PubMed )
Supplement: supp_JCO.2016.66.6487_DS_2016.666487.xlsx › SNV__Indels

Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.

Rosipal R et al.

Human Mutation, 1999

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