Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.A2355fs
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KMT2D

NM_003482.4:p.A2355fs

Associated Papers

Individualized management strategies for advanced non-small cell lung cancer with EGFR exon 19 deletion and L861Q compound mutations based on circulating tumor DNA monitoring: A case report.

Zhu X et al.

Oncology Letters, 2026

41509005 (PubMed )
Supplement: Supplementary_Data2.pdf

SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.

Barreiros LA et al.

Journal of Clinical Immunology, 2022

Clonal relationship and directionality of progression of synchronous endometrial and ovarian carcinomas in patients with DNA mismatch repair-deficiency associated syndromes.

Moukarzel LA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021

33328602 (PubMed )
Supplement: NIHMS1642406-supplement-Supplementary_Material.pdf

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Bögershausen N et al.

Human Mutation, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."