Varaico: Literature-Extracted Genetic Variants

Gene:FGF20
Variant:p.D82N
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FGF20

NM_019851.3:p.D82N

Associated Papers

EBV+ nodal T/NK-cell lymphoma associated with clonal hematopoiesis and structural variations of the viral genome.

Kato S et al.

Blood Advances, 2024

38429084 (PubMed )
Supplement: BLOODA_ADV-2023-012019-mmc1.pdf

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: Table1.XLS › Sheet

Multifocal organoids reveal clonal associations between synchronous intestinal tumors with pervasive heterogeneous drug responses.

Jeong N et al.

Npj Genomic Medicine, 2022

35853873 (PubMed )
Supplement: 41525_2022_313_MOESM3_ESM.xlsx › Supplementary_Data_2e

Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Li Y et al.

Frontiers in Oncology, 2022

36387164 (PubMed )
Supplement: Table_1.xlsx › sheet1

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 › HL1
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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."