Varaico: Literature-Extracted Genetic Variants

Gene:CHD1L
Variant:p.R116Splc
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CHD1L

NM_004284.6:p.R116Splc

Associated Papers

Identification and functional characteristics of CHD1L gene variants implicated in human Müllerian duct anomalies.

Chen S et al.

Biological Research, 2024

Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.

Li K et al.

Nucleic Acids Research, 2022

35993808 (PubMed )
Supplement: gkac686_supplemental_files.zip › Table_S4_The_positive_and_negative_splicing_variants_benchmarker.xlsx › ROC
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