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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EAPP

Variant:p.D115N

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EAPP

NM_018453.4:p.D115N

hg38:chr14:34533453 C>T

Associated Papers

Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy.

Lewis-Smith DJ et al.

Neurology. Genetics, 2016

27830184 (PubMed )

Supplement: supp_2.6.e110_Supplementary_material.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."