Varaico: Literature-Extracted Genetic Variants

Gene:NPIPA1
Variant:p.L313F
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NPIPA1

NM_006985.4:p.L313F

Associated Papers

The CC2D2B is a novel genetic modifier of the clinical phenotype in patients with hereditary angioedema due to C1 inhibitor deficiency.

Rupar N et al.

Gene, 2024

Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in COL4A6 and COL4A5.

Zhou X et al.

Frontiers in Medicine, 2021

34778325 (PubMed )
Supplement: Data_Sheet_2.PDF

Germline Predisposition and Copy Number Alteration in Pre-stage Lung Adenocarcinomas Presenting as Ground-Glass Nodules.

Ren Y et al.

Frontiers in Oncology, 2019

31058088 (PubMed )
Supplement: Data_Sheet_1.PDF

The genomic landscape of TERT promoter wildtype-IDH wildtype glioblastoma.

Diplas BH et al.

Nature Communications, 2018

29802247 (PubMed )
Supplement: 41467_2018_4448_MOESM11_ESM.xlsx › 8_SNV_WGS
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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."