Varaico: Literature-Extracted Genetic Variants

Gene:MYRF
Variant:p.T419fs
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MYRF

NM_001127392.3:p.T419fs

Associated Papers

MYRF Variants in Patients With 46,XY Differences/Disorders of Sex Development and Literature Review.

Zhang W et al.

American Journal of Medical Genetics. Part A, 2025

Truncation mutations in MYRF underlie primary angle closure glaucoma.

Ouyang J et al.

Human Genetics, 2023

Case Report: De novo variant in myelin regulatory factor in a Chinese child with 46,XY disorder/difference of sex development, cardiac and urogenital anomalies, and short stature.

Wang H et al.

Frontiers in Pediatrics, 2022

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.

Rossetti LZ et al.

American Journal of Medical Genetics. Part A, 2019

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.

Qi H et al.

Plos 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."