Varaico: Literature-Extracted Genetic Variants

Gene:CCDC39
Variant:p.L887insFs
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CCDC39

NM_181426.2:p.L887insFs

Associated Papers

Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.

D'Agostino Y et al.

Diagnostics (basel, Switzerland), 2022

36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1

A Study on the Genetics of Primary Ciliary Dyskinesia.

Alsamri MT et al.

Journal of Clinical Medicine, 2021

Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.

Hildebrandt MR et al.

Stem Cell Reports, 2019

31813827 (PubMed )
Supplement: mmc3.xlsx › SNVs

Exome-based search for recurrent disease-causing alleles in Russian population.

Yanus GA et al.

European Journal of Medical Genetics, 2019

Airway ciliary dysfunction and respiratory symptoms in patients with transposition of the great arteries.

Zahid M et al.

Plos One, 2018

29444099 (PubMed )
Supplement: pone.0191605.s014.xlsx › PCDMutationsTGAPatients

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Saleheen D et al.

Nature, 2017

28406212 (PubMed )
Supplement: NIHMS857566-supplement-Suppl__Table_1.xlsx › Supplementary_Table_1
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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."