Varaico: Literature-Extracted Genetic Variants

Gene:CCDC141
Variant:p.V1457I
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CCDC141

NM_173648.4:p.V1457I

Associated Papers

Reproductive Phenotypes and Genotypes in Men With IHH.

Dwyer AA et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.

Quarantani G et al.

Plos One, 2023

37540677 (PubMed )
Supplement: pone.0288336.s005.xlsx › Supplementary_Table_IV

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

Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry.

Okashah S et al.

Genes, 2022

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 452.202
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