Varaico: Literature-Extracted Genetic Variants

Gene:MAP6D1
Variant:p.P54P
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MAP6D1

NM_024871.4:p.P54P

Associated Papers

Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent.

Bijarnia S et al.

Indian Journal of Pediatrics, 2013

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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."