Varaico: Literature-Extracted Genetic Variants

Gene:P3H2
Variant:p.P636S
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P3H2

NM_018192.4:p.P636S

Associated Papers

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_3

Exome sequencing study of Russian breast cancer patients suggests a predisposing role for USP39.

Kuligina ES et al.

Breast Cancer Research and Treatment, 2020

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

Haer-Wigman L et al.

European Journal of Human Genetics : Ejhg, 2017

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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."