Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.S4073*
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KMT2D

NM_003482.4:p.S4073*

Associated Papers

Targeted therapy of advanced parathyroid carcinoma guided by genomic and transcriptomic profiling.

Teleanu MV et al.

Molecular Oncology, 2023

36808802 (PubMed )
Supplement: MOL2-17-1343-s001.zip › mol213398-sup-0003-TableS3.xlsx › SF3.1_SNV

Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.

Wilson K et al.

Human Molecular Genetics, 2023

37010288 (PubMed )
Supplement: supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx › S4

Comprehensive evaluation of genetic variants using chromosomal microarray analysis and exome sequencing in fetuses with congenital heart defect.

Qiao F et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2021

Genomic Profiling Identified ERCC2 E606Q Mutation in Helicase Domain Respond to Platinum-Based Neoadjuvant Therapy in Urothelial Bladder Cancer.

Hirotsu Y et al.

Frontiers in Oncology, 2020

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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."