Varaico: Literature-Extracted Genetic Variants

Gene:FRAS1
Variant:p.R124*
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FRAS1

NM_025074.7:p.R124*

Associated Papers

Rare variants and founder effect in the Beauce region of Quebec.

Gagnon M et al.

Communications Biology, 2025

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Genetic landscape of recessive diseases in the Vietnamese population from large-scale clinical exome sequencing.

Tran NH et al.

Human Mutation, 2021

Characteristic dental pattern with hypodontia and short roots in Fraser syndrome.

Kunz F et al.

American Journal of Medical Genetics. Part A, 2020

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.

Boissel S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

Clinical and molecular studies in two families with Fraser syndrome: a new FRAS1 gene mutation, prenatal ultrasound findings and implications for genetic counselling.

Ogur G et al.

Genetic Counseling (geneva, Switzerland), 2011

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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."