Varaico: Literature-Extracted Genetic Variants

Gene:DPH1
Variant:p.L120P
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DPH1

NM_001383.6:p.L120P

Associated Papers

Non-RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome.

Kim GJ et al.

American Journal of Medical Genetics. Part A, 2025

Systematic phenotype and genotype characterization of Moebius syndrome.

Webb BD et al.

Genetics in Medicine Open, 2025

40662098 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_8
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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."