Varaico: Literature-Extracted Genetic Variants

Gene:DNHD1
Variant:p.V2374M
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DNHD1

NM_144666.3:p.V2374M

Associated Papers

Expanding the phenotypic spectrum associated with CFAP43 mutations: a case report of familial male infertility with respiratory manifestations.

Awad F et al.

Frontiers in Reproductive Health, 2025

41341611 (PubMed )
Supplement: Datasheet1.xlsx › Patient_2

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf
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