Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.P242_A243insA
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SLC19A2

NM_006996.3:p.P242_A243insA

Associated Papers

Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report.

Katipoğlu N et al.

Archivos Argentinos De Pediatria, 2017

[Fanconi-type hereditary infantile panmyelopathy (Fanconi's anemia). Report of a case].

SAGUI G et al.

Archivio Italiano Di Pediatria E Puericoltura, 1962

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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."