Varaico: Literature-Extracted Genetic Variants

Gene:ALG13
Variant:p.Y1074F
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ALG13

NM_001099922.3:p.Y1074F

Associated Papers

X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.

Bissar-Tadmouri N et al.

American Journal of Medical Genetics. Part A, 2014

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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."