Varaico: Literature-Extracted Genetic Variants

Gene:ESR2
Variant:p.I184delFs
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ESR2

NM_001437.3:p.I184delFs

Associated Papers

Molecular diagnosis in LGMD2A: mutation analysis or protein testing?

Fanin M et al.

Human Mutation, 2004

Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.

Canki-Klain N et al.

American Journal of Medical Genetics. Part A, 2004

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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."