Varaico: Literature-Extracted Genetic Variants

Gene:SCP2D1
Variant:p.E147G
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SCP2D1

NM_178483.3:p.E147G

Associated Papers

CNP deficiency causes severe hypomyelinating leukodystrophy in humans.

Al-Abdi L et al.

Human Genetics, 2020

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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."