Varaico: Literature-Extracted Genetic Variants

Gene:EXO1
Variant:p.E703_E704Splc
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EXO1

NM_130398.4:p.E703_E704Splc

Associated Papers

Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.

Lu YB et al.

Journal of Human Genetics, 2005

Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations.

Yamaguchi N et al.

Human Mutation, 2002

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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."