Varaico: Literature-Extracted Genetic Variants

Gene:CD2AP
Variant:p.I219T
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CD2AP

NM_012120.3:p.I219T

Associated Papers

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.

Astrea G et al.

Orphanet Journal of Rare Diseases, 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."