Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.S1462I
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DSP

NM_004415.4:p.S1462I

Associated Papers

A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum.

Ajam-Hosseini M et al.

Bmc Medical Genomics, 2023

36829172 (PubMed )
Supplement: 12920_2023_1467_MOESM1_ESM.xls › BY1261.txt.nznd

Structural consequences of mutations associated with idiopathic restrictive cardiomyopathy.

Tarnovskaya S et al.

Amino Acids, 2017

Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing.

Kostareva A et al.

Plos One, 0

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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."