Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A1
Variant:p.D15fs
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SLC16A1

NM_003051.4:p.D15fs

Associated Papers

Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature.

Stanescu S et al.

Orphanet Journal of Rare Diseases, 2022

Clinical and Genetic Characterization of 153 Patients with Persistent or Transient Congenital Hyperinsulinism.

Männistö JME et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

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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."