Varaico: Literature-Extracted Genetic Variants

Gene:MAP6
Variant:p.R302Splc
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MAP6

NM_033063.2:p.R302Splc

Associated Papers

[Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis].

Bi HY et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2006

Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1).

Salonen T et al.

Human Mutation, 2000

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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."