Varaico: Literature-Extracted Genetic Variants

Gene:NBPF15
Variant:p.F69S
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NBPF15

NM_001385408.1:p.F69S

Associated Papers

Whole-genome analysis identifies novel drivers and high-risk double-hit events in relapsed/refractory myeloma.

Ansari-Pour N et al.

Blood, 2023

36223594 (PubMed )
Supplement: BLOOD_BLD-2022-017010-mmc2.xlsx › Supplementary_Table_S2

Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Park H et al.

Acta Neuropathologica Communications, 2022

35246273 (PubMed )
Supplement: 40478_2022_1333_MOESM3_ESM.xlsx › Exome_summary

Germinal GLT8D1, GATAD2A and SLC25A39 mutations in a patient with a glomangiopericytal tumor and five different sarcomas over a 10-year period.

Beddok A et al.

Scientific Reports, 2021

33963205 (PubMed )
Supplement: 41598_2021_88671_MOESM8_ESM.xlsx › Supp_Table_S3

Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.

Xing Y et al.

Plos Neglected Tropical Diseases, 2020

33362202 (PubMed )
Supplement: pntd.0008883.s010.xlsx › S9-rare_variants_in_8_families

Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.

Dufva O et al.

Nature Communications, 2018

29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM6_ESM.xlsx › NKTCL_L04

Age-related mutations and chronic myelomonocytic leukemia.

Mason CC et al.

Leukemia, 2016

26648538 (PubMed )
Supplement: 41375_2016_BFleu2015337_MOESM120_ESM.xlsx › ST7
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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."