Varaico: Literature-Extracted Genetic Variants

Gene:NPIPA3
Variant:p.L313F
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NPIPA3

NM_001395487.1:p.L313F

Associated Papers

Duchenne Muscular Dystrophy and Early Onset Hypertrophic Cardiomyopathy associated with Mutations in Dystrophin and Hypertrophic Cardiomyopathy-Associated Genes.

Aspit L et al.

Journal of Pediatric Genetics, 2022

Genomic and Transcriptomic Characterization of Relapsed SCLC Through Rapid Research Autopsy.

Chen HZ et al.

Jto Clinical and Research Reports, 2021

34590014 (PubMed )
Supplement: mmc7.xlsx › T5

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL2

Tumor heterogeneity and acquired drug resistance in FGFR2-fusion-positive cholangiocarcinoma through rapid research autopsy.

Krook MA et al.

Cold Spring Harbor Molecular Case Studies, 2019

31371345 (PubMed )
Supplement: supp_mcs.a004002_Supplemental_S1.xlsx › Right_kidney_lymph_node
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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."