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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ENAH

Variant:p.M1T

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ENAH

NM_018212.6:p.M1T

hg38:chr1:225652689 A>G

Associated Papers

Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.

Al-Jasmi FA et al.

Jimd Reports, 2013

23430803 (PubMed )

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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."