Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.P1359delFs
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NF1

NM_001042492.3:p.P1359delFs

Associated Papers

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3A

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

Single-cell DNA and surface protein characterization of high hyperdiploid acute lymphoblastic leukemia at diagnosis and during treatment.

Aertgeerts M et al.

Hemasphere, 2025

39944233 (PubMed )
Supplement: HEM3-9-e70085-s003.xlsx › XI148

Adult Low-Hypodiploid Acute Lymphoblastic Leukemia Emerges from Preleukemic TP53-Mutant Clonal Hematopoiesis.

Kim R et al.

Blood Cancer Discovery, 2023

36630200 (PubMed )
Supplement: bcd-22-0154_supplementary_tables_s1-s11_suppst1-st11.xlsx › TableS2

Identification of the genetic basis of pediatric neurogenetic disorders at a tertiary referral hospital in Indonesia: Contribution of whole exome sequencing.

Triono A et al.

Plos One, 2023

NOTCH1 pathway activating mutations and clonal evolution in pediatric T-cell acute lymphoblastic leukemia.

Kimura S et al.

Cancer Science, 2019

30387229 (PubMed )
Supplement: CAS-110-784-s012.xlsx › Sup3_Mutation

The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs).

Upadhyaya M et al.

Human Mutation, 2006

Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations.

Osborn MJ et al.

Human Genetics, 1999

Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.

Upadhyaya M et al.

Human Genetics, 1997

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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."