Varaico: Literature-Extracted Genetic Variants

Gene:ARSJ
Variant:p.P469L
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ARSJ

NM_024590.4:p.P469L

Associated Papers

Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.

Yin X et al.

Nature Communications, 2025

40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM6_ESM.xlsx › Supplementary_Data_3_pathogenic

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table2.XLSX › Sheet1

Whole Exome Sequencing in Two Southeast Asian Families With Atypical Femur Fractures.

Zhou W et al.

Jbmr Plus, 2022

35991532 (PubMed )
Supplement: JBM4-6-e10659-s002.xlsx › Supl1.Dominant_model
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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."