Varaico: Literature-Extracted Genetic Variants

Gene:PCSK7
Variant:p.S550R
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PCSK7

NM_004716.4:p.S550R

Associated Papers

Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis.

Zhang W et al.

Orphanet Journal of Rare Diseases, 2022

35668470 (PubMed )
Supplement: 13023_2022_2349_MOESM5_ESM.xlsx › ________

Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences.

Priedigkeit N et al.

Breast Cancer Research : Bcr, 2021

33407744 (PubMed )
Supplement: 13058_2020_1379_MOESM2_ESM.xlsx › S4

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_5

Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Broutier L et al.

Nature Medicine, 2017

29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S3_HCC-3_coding_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."