Varaico: Literature-Extracted Genetic Variants

Gene:DNHD1
Variant:p.R3542*
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DNHD1

NM_144666.3:p.R3542*

Associated Papers

Novel biallelic DNHD1 variants associated with male infertility with severe MMAF phenotype.

Uddin I et al.

Asian Journal of Andrology, 2025

Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.

Horbacz M et al.

Frontiers in Medicine, 2025

41210864 (PubMed )
Supplement: Table_5.XLSX › Supplementary_Table_5

Genomic characterization of co-existing neoplasia and carcinoma lesions reveals distinct evolutionary paths of gallbladder cancer.

Lin J et al.

Nature Communications, 2021

34362903 (PubMed )
Supplement: 41467_2021_25012_MOESM3_ESM.xlsx › TableS2.SomaticMutations
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