Varaico: Literature-Extracted Genetic Variants

Gene:KAT6B
Variant:p.P1882delFs
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KAT6B

NM_012330.4:p.P1882delFs

Associated Papers

High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.

Kunisetty B et al.

Investigative Ophthalmology & Visual Science, 2024

38502138 (PubMed )
Supplement: iovs-65-3-25_s002.xlsx › Sheet1

Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience.

Nassar A et al.

Current Issues in Molecular Biology, 2022

36547062 (PubMed )
Supplement: cimb-44-00401-s001.zip › supplementary_2.xlsx › cancer_driver

Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.

Olkinuora AP et al.

Frontiers in Oncology, 2022

36387175 (PubMed )
Supplement: Table_7.xlsx › Table_S7

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

Hauer NN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

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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."