Varaico: Literature-Extracted Genetic Variants

Gene:MUC20
Variant:p.T447M
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MUC20

NM_001282506.2:p.T447M

Associated Papers

Whole-Genome Landscape of Retinal Hemangioblastomas.

Bals K et al.

Translational Vision Science & Technology, 2026

41533848 (PubMed )
Supplement: tvst-15-1-5_s003.xlsx › Supplementary_Table_2

Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.

Zhu S et al.

Human Mutation, 2025

40918684 (PubMed )
Supplement: 6824122.f3.xlsx › Table_S3

Investigating gene functions and single-cell expression profiles of de novo variants in orofacial clefts.

Itai T et al.

Hgg Advances, 2024

38807368 (PubMed )
Supplement: mmc2.xlsx › Table_S3

Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate.

Awotoye W et al.

Scientific Reports, 2022

35817949 (PubMed )
Supplement: 41598_2022_15885_MOESM1_ESM.pdf

Establishment and Characterization of a Novel Human Ocular Adnexal Sebaceous Carcinoma Cell Line.

Rong AJ et al.

Translational Vision Science & Technology, 2021

34043754 (PubMed )
Supplement: tvst-10-6-34_s002.xlsx › 50_cell_norm_mutect.vcf.anno.hg

A glioneuronal tumor with CLIP2-MET fusion.

Chowdhury T et al.

Npj Genomic Medicine, 2020

32550005 (PubMed )
Supplement: 41525_2020_131_MOESM2_ESM.xlsx › Mutation__exonic_splicing_

Acquired TET2 mutation in one patient with familial platelet disorder with predisposition to AML led to the development of pre-leukaemic clone resulting in T2-ALL and AML-M0.

Manchev VT et al.

Journal of Cellular and Molecular Medicine, 2017

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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."