Varaico: Literature-Extracted Genetic Variants

Gene:ITGA7
Variant:p.E886K
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ITGA7

NM_001144996.2:p.E886K

Associated Papers

Case Report: A Boy From a Consanguineous Family Diagnosed With Congenital Muscular Dystrophy Caused by Integrin Alpha 7 (ITGA7) Mutation.

Xia W et al.

Frontiers in Genetics, 2021

Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy.

Esposito T et al.

Orphanet Journal of Rare Diseases, 2013

Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology.

Pegoraro E et al.

The American Journal of Pathology, 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."