Varaico: Literature-Extracted Genetic Variants

Gene:MYRF
Variant:p.S264fs
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MYRF

NM_001127392.3:p.S264fs

Associated Papers

Two Cases of MYRF-Related Differences of Sex Development: A Wide Phenotypic Spectrum.

Dayno A et al.

Jcem Case Reports, 2026

Genetic Spectrum and Genotype-Phenotype Correlations in a Chinese Cohort With Nanophthalmos With Secondary Angle-Closure Glaucoma.

Yu X et al.

Investigative Ophthalmology & Visual Science, 2025

Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

Slavotinek A et al.

Npj Genomic Medicine, 2023

37872195 (PubMed )
Supplement: 41525_2023_382_MOESM1_ESM.pdf

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

Slavotinek A et al.

Npj Genomic Medicine, 2023

37236975 (PubMed )
Supplement: 41525_2023_353_MOESM1_ESM.pdf

A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Peng L et al.

Cell Death & Disease, 2022

35459861 (PubMed )
Supplement: 41419_2022_4844_MOESM4_ESM.xlsx › Supplementary_Table_3

Nanophthalmos-Associated MYRF Gene Mutation Causes Ciliary Zonule Defects in Mice.

Yu X et al.

Investigative Ophthalmology & Visual Science, 2021

Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.

Sparks TN et al.

The New England Journal of Medicine, 2020

Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study.

Guo C et al.

Investigative Ophthalmology & Visual Science, 2019

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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."