Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.I411M
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SLC19A2

NM_006996.3:p.I411M

Associated Papers

Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient.

Manimaran P et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016

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