Varaico: Literature-Extracted Genetic Variants

Gene:CASQ1
Variant:p.E93_L94Splc
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CASQ1

NM_001231.5:p.E93_L94Splc

Associated Papers

Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients.

Brugnoni R et al.

Neuromuscular Disorders : Nmd, 2021

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 670.267
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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."