Varaico: Literature-Extracted Genetic Variants

Gene:CHPF
Variant:p.Q475*
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CHPF

NM_024536.6:p.Q475*

Associated Papers

Congenital muscular dystrophy caused by beta1,3-N-acetylgalactosaminyltransferase 2 gene mutation: Two case reports.

Wu WJ et al.

World Journal of Clinical Cases, 2022

Rates and Patterns of Clonal Oncogenic Mutations in the Normal Human Brain.

Ganz J et al.

Cancer Discovery, 2022

34389641 (PubMed )
Supplement: cd-21-0245_table_s2_suppst2.xlsx › GTEx_filtered_variants__B_
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