Varaico: Literature-Extracted Genetic Variants

Gene:MTSS1
Variant:p.S275R
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MTSS1

NM_014751.6:p.S275R

Associated Papers

Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.

Marinella G et al.

Genes, 2023

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.

Schartner V et al.

Acta Neuropathologica, 2017

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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."