Varaico: Literature-Extracted Genetic Variants

Gene:PLXNA1
Variant:p.V1113L
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PLXNA1

NM_032242.4:p.V1113L

Associated Papers

Functional Validation and Phenotypic Spectrum of Splice-Site Variants in CHD7, FGFR1, and ANOS1 in Congenital Hypogonadotropic Hypogonadism.

Li Y et al.

Clinical Genetics, 2025

Rare variant analysis of PLXNA1 in Parkinson's disease in the Chinese population.

Li C et al.

Genes & Diseases, 2023

37397528 (PubMed )
Supplement: mmc1.pdf

Analysis of PLXNA1, NRP1, and NRP2 variants in a cohort of patients with isolated hypogonadotropic hypogonadism.

Men M et al.

Molecular Genetics & Genomic Medicine, 2021

Identification of Characteristic Genomic Markers in Human Hepatoma HuH-7 and Huh7.5.1-8 Cell Lines.

Kawamoto M et al.

Frontiers in Genetics, 2020

33193621 (PubMed )
Supplement: Data_Sheet_1.xlsx › Candidate_Gene_Detail

Genomic and molecular characterization of esophageal squamous cell carcinoma.

Lin DC et al.

Nature Genetics, 2014

24686850 (PubMed )
Supplement: NIHMS573166-supplement-9.xlsx › Supplementary_Table_11
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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."