Varaico: Literature-Extracted Genetic Variants

Gene:PCDHA8
Variant:p.E55D
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PCDHA8

NM_018911.3:p.E55D

Associated Papers

Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.

Li Y et al.

Bmc Medical Genomics, 2024

38659011 (PubMed )
Supplement: 12920_2024_1877_MOESM2_ESM.xlsx › H12056928648

Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Glentis S et al.

Frontiers in Genetics, 2019

31681433 (PubMed )
Supplement: DataSheet_1.xlsx › Supplemetary_Table_10

Genome Analysis of Osteosarcoma Progression Samples Identifies FGFR1 Overexpression as a Potential Treatment Target and CHM as a Candidate Tumor Suppressor Gene.

Barøy T et al.

Plos One, 0

27685995 (PubMed )
Supplement: pone.0163859.s005.xlsx › OS111
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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."