Varaico: Literature-Extracted Genetic Variants

Gene:MAPRE2
Variant:p.W153L
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MAPRE2

NM_014268.4:p.W153L

Associated Papers

Rare Cause of West syndrome secondary to Tubulinopathy due to Congenital Symmetric Circumferential Skin Creases (CSCSC) Kunze Type due to a Novel Variant in MAPRE2 Gene.

Gowda VK et al.

Annals of Indian Academy of Neurology, 0

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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."