Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.R3707Q
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KMT2D

NM_003482.4:p.R3707Q

Associated Papers

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shah SM et al.

Cancer Research Communications, 2024

38282550 (PubMed )
Supplement: crc-23-0312-s02.xlsx › Fig3B_EC_data

Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review.

Li N et al.

Medicine, 2017

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