Varaico: Literature-Extracted Genetic Variants

Gene:DYSF
Variant:p.K930N
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DYSF

NM_001130987.2:p.K930N

Associated Papers

Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy.

Rufibach L et al.

Journal of Personalized Medicine, 2023

36983702 (PubMed )
Supplement: jpm-13-00520-s001.zip › Supplementary_tables_S1-S4.xlsx › Table_S4_-_reclassification

4-Phenylbutyrate restores localization and membrane repair to human dysferlin mutations.

Tominaga K et al.

Iscience, 2022

35028538 (PubMed )
Supplement: mmc1.pdf

[Amyloidosis in muscular dystrophy].

Carl M et al.

Der Pathologe, 2009

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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."