Varaico: Literature-Extracted Genetic Variants

Gene:PCDHAC1
Variant:p.E28*
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PCDHAC1

NM_018898.5:p.E28*

Associated Papers

Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway.

Fernandez-Luna JL et al.

Molecular Genetics & Genomic Medicine, 2024

38803233 (PubMed )
Supplement: MGG3-12-e2471-s001.xls › Sheet1

Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Subramanian DN et al.

Nature Communications, 2020

32242007 (PubMed )
Supplement: 41467_2020_15461_MOESM4_ESM.xlsx › Data_1
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