Varaico: Literature-Extracted Genetic Variants

Gene:SYNC
Variant:p.Q257*
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SYNC

NM_030786.3:p.Q257*

Associated Papers

Haploinsufficiency of syncoilin leads to hypertrophic cardiomyopathy.

Fan LL et al.

Genes & Diseases, 2022

Coding Variants Coupled With Rapid Modeling in Zebrafish Implicate Dynein Genes, dnaaf1 and zmynd10, as Adolescent Idiopathic Scoliosis Candidate Genes.

Wang Y et al.

Frontiers in Cell and Developmental Biology, 2020

33251213 (PubMed )
Supplement: Data_Sheet_1.XLSX › S2.SNVs
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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."