Varaico: Literature-Extracted Genetic Variants

Gene:CEP290
Variant:p.Q1790*
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CEP290

NM_025114.4:p.Q1790*

Associated Papers

Genetic etiological spectrum of sperm morphological abnormalities.

Arora M et al.

Journal of Assisted Reproduction and Genetics, 2024

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2

Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.

Chau JFT et al.

Npj Genomic Medicine, 2022

35314707 (PubMed )
Supplement: 41525_2022_287_MOESM3_ESM.xlsx › SNV
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