Varaico: Literature-Extracted Genetic Variants

Gene:DYM
Variant:p.R428*
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DYM

NM_001353214.3:p.R428*

Associated Papers

Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2.

Akalın A et al.

American Journal of Medical Genetics. Part A, 2024

Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease.

Yemni EA et al.

Scientific Reports, 2019

30833663 (PubMed )
Supplement: 41598_2019_40102_MOESM1_ESM.pdf

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
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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."