Varaico: Literature-Extracted Genetic Variants

Gene:CWC27
Variant:p.T69S
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CWC27

NM_005869.4:p.T69S

Associated Papers

A novel small deletion in CWC27 gene associated with CWC27-related spliceosomeopathy.

Li H et al.

Ophthalmic Genetics, 2024

38956876 (PubMed )
Supplement: supplement_1.pdf

A de novo paradigm for male infertility.

Oud MS et al.

Nature Communications, 2022

35013161 (PubMed )
Supplement: 41467_2021_27132_MOESM4_ESM.xlsx › Supplementary_Data_1
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