Varaico: Literature-Extracted Genetic Variants

Gene:CHMP4A
Variant:p.Q136*
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CHMP4A

NM_014169.5:p.Q136*

Associated Papers

Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.

Rodríguez-Solana P et al.

International Journal of Molecular Sciences, 2023

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
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