Varaico: Literature-Extracted Genetic Variants

Gene:ALG14
Variant:p.M183L
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ALG14

NM_144988.4:p.M183L

Associated Papers

Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.

Kvarnung M et al.

Clinical Genetics, 2018

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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."