Varaico: Literature-Extracted Genetic Variants

Gene:FRAS1
Variant:p.D1682E
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FRAS1

NM_025074.7:p.D1682E

Associated Papers

Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.

Kouri C et al.

Ebiomedicine, 2024

38168586 (PubMed )
Supplement: mmc1.pdf

Spectrum of clinical heterogeneity of β-tubulin TUBB5 gene mutations.

Madrigal I et al.

Gene, 2019

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › BE-2C

iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.

Melguizo-Sanchis D et al.

Cell Death & Disease, 2018

29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA2_Deleterious_Hits
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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."