Varaico: Literature-Extracted Genetic Variants

Gene:HPCAL4
Variant:p.R139H
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HPCAL4

NM_016257.4:p.R139H

Associated Papers

CHEK1 variant is a risk factor for premature ovarian insufficiency by mis- regulating metabolism and inflammation-related genes.

Guo J et al.

Human Genomics, 2025

40533835 (PubMed )
Supplement: 40246_2025_774_MOESM4_ESM.xlsx › Sheet1

Patient-specific molecular alterations are associated with metastatic clear cell renal cell cancer progressing under tyrosine kinase inhibitor therapy.

Dietz S et al.

Oncotarget, 2017

29088767 (PubMed )
Supplement: oncotarget-08-74049-s002.xlsx › Patient_1_-_Baseline
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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."