Varaico: Literature-Extracted Genetic Variants

Gene:FOXD3
Variant:p.R54H
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FOXD3

NM_012183.3:p.R54H

Associated Papers

Embryonic stem cell factor FOXD3 (Genesis) defects in gastrointestinal stromal tumors.

Faucz FR et al.

Endocrine-related Cancer, 2023

Exome sequencing in families with chronic central serous chorioretinopathy.

Schellevis RL et al.

Molecular Genetics & Genomic Medicine, 2019

30724488 (PubMed )
Supplement: MGG3-7-na-s005.xlsx › Family_6

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1635.580
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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."