Varaico: Literature-Extracted Genetic Variants

Gene:AICDA
Variant:p.D143Splc
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AICDA

NM_020661.4:p.D143Splc

Associated Papers

Clinical and molecular characteristics of 35 Chinese children with Wiskott-Aldrich syndrome.

Lee PP et al.

Journal of Clinical Immunology, 2009

Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome.

Lee WI et al.

Blood, 2005

Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families.

Tang NL et al.

Human Mutation, 2000

MTM1 mutations in X-linked myotubular myopathy.

Laporte J et al.

Human Mutation, 2000

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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."