Varaico: Literature-Extracted Genetic Variants

Gene:MED11
Variant:p.Q77*
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MED11

NM_001001683.4:p.Q77*

Associated Papers

Prenatal Diagnosis of MED11-Related Condition in a Family Presented With Recurrent Increased Nuchal Translucency and Hydrops Fetalis.

Zhen L et al.

Prenatal Diagnosis, 2026

Prenatal Phenotypic Expansion: A Fetus With Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, and Brain Abnormalities (NDDRSB) and MED11 Variants.

Zhou C et al.

Prenatal Diagnosis, 2025

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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."