Varaico: Literature-Extracted Genetic Variants

Gene:NBPF9
Variant:p.R296H
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NBPF9

NM_001388367.1:p.R296H

Associated Papers

Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.

Milanowski LM et al.

International Journal of Molecular Sciences, 2022

35806091 (PubMed )
Supplement: ijms-23-07086-s001.zip › Supplementary_Table_S1.xlsx › Heterozygotes

Analysis of clinical characteristics and genetic testing in patients with acute fatty liver of pregnancy: a retrospective study.

Shi Y et al.

Bmc Pregnancy and Childbirth, 2021

34496798 (PubMed )
Supplement: 12884_2021_4095_MOESM3_ESM.xlsx › PASS_annova

Establishment and Characterization of a Novel Human Ocular Adnexal Sebaceous Carcinoma Cell Line.

Rong AJ et al.

Translational Vision Science & Technology, 2021

34043754 (PubMed )
Supplement: tvst-10-6-34_s001.xlsx › 50_tum_norm_mutect.vcf.anno.hg3
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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."