Varaico: Literature-Extracted Genetic Variants

Gene:L2HGDH
Variant:p.I278S
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L2HGDH

NM_024884.3:p.I278S

Associated Papers

Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria.

Zübarioğlu T et al.

Turk Pediatri Arsivi, 2020

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.

Taylan F et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2016

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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."