Varaico: Literature-Extracted Genetic Variants

Gene:UBA52
Variant:p.E64Splc
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UBA52

NM_001033930.3:p.E64Splc

Associated Papers

Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.

Gijselinck I et al.

Human Mutation, 2008

Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations.

Yoshida T et al.

American Journal of Human Genetics, 2002

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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."