Varaico: Literature-Extracted Genetic Variants

Gene:FRG1
Variant:p.K212del1
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FRG1

NM_004477.3:p.K212del1

Associated Papers

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

Novel rare genetic variants of familial and sporadic pulmonary atresia identified by whole-exome sequencing.

Xing J et al.

Open Life Sciences, 2023

37215497 (PubMed )
Supplement: biol-2022-0593-sm.pdf

Comprehensive analysis of age-related somatic mutation profiles in Chinese young lung adenocarcinoma patients.

Yang B et al.

Cancer Medicine, 2019

Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Cornelius A et al.

Frontiers in Pharmacology, 2017

28993730 (PubMed )
Supplement: Table1.xlsx › Somatic_10-20__VAF
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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."