Varaico: Literature-Extracted Genetic Variants

Gene:DYM
Variant:p.S21*
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DYM

NM_001353214.3:p.S21*

Associated Papers

Dyggve-Melchior-Clausen Syndrome in Ecuador: Expanding Knowledge on a Rare Genetic Disorder.

Reyes-Silva C et al.

Genes, 2025

40428312 (PubMed )
Supplement: genes-16-00490-s001.zip › genes-3576202-supplementary.xlsx › Table_S2

Case Report: Precision genetic diagnosis in a case of Dyggve-Melchior-Clausen syndrome reveals paternal isodisomy and heterodisomy of chromosome 18 with imprinting clinical implications.

López-Garrido MP et al.

Frontiers in Genetics, 2022

Integration of genomics and histology revises diagnosis and enables effective therapy of refractory cancer of unknown primary with PDL1 amplification.

Gröschel S et al.

Cold Spring Harbor Molecular Case Studies, 2016

27900363 (PubMed )
Supplement: supp_mcs.a001180_SuppTabS1.xls › 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."