Varaico: Literature-Extracted Genetic Variants

Gene:DYSF
Variant:p.E1938_I1941del0
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DYSF

NM_001130987.2:p.E1938_I1941del0

Associated Papers

MicroRNA signatures predict dysregulated vitamin D receptor and calcium pathways status in limb girdle muscle dystrophies (LGMD) 2A/2B.

Aguennouz M et al.

Cell Biochemistry and Function, 2016

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.

Magri F et al.

Bmc Neurology, 2015

26404900 (PubMed )
Supplement: 12883_2015_428_MOESM1_ESM.pdf

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.

Cacciottolo M et al.

European Journal of Human Genetics : Ejhg, 2011

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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."