Varaico: Literature-Extracted Genetic Variants

Gene:FRAS1
Variant:p.R385*
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FRAS1

NM_025074.7:p.R385*

Associated Papers

Exome Sequencing in Fetuses With Bilateral Renal Agenesis Identified on Second Trimester Ultrasound: A Single Referral Center Experience.

Yu QX et al.

Prenatal Diagnosis, 2025

Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.

Midro AT et al.

American Journal of Medical Genetics. Part A, 2020

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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."