Varaico: Literature-Extracted Genetic Variants

Gene:GAN
Variant:p.P297L
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GAN

NM_022041.4:p.P297L

Associated Papers

Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.

Mortreux J et al.

Journal of Human Genetics, 2020

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.

Bacquet J et al.

Bmj Open, 2018

30373780 (PubMed )
Supplement: bmjopen-2018-021632.draft_revisions.pdf
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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."