Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.S102fs
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KMT2D

NM_003482.4:p.S102fs

Associated Papers

Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.

Klau J et al.

European Journal of Human Genetics : Ejhg, 2022

34690354 (PubMed )
Supplement: 41431_2021_981_MOESM3_ESM.xlsx › variants

Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.

Nguyen HT et al.

Frontiers in Oncology, 2022

36578946 (PubMed )
Supplement: DataSheet_2.xlsx › Variants_detected_in_FFPE
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