Varaico: Literature-Extracted Genetic Variants

Gene:FRAS1
Variant:p.L259R
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FRAS1

NM_025074.7:p.L259R

Associated Papers

Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Park H et al.

Acta Neuropathologica Communications, 2022

35246273 (PubMed )
Supplement: 40478_2022_1333_MOESM3_ESM.xlsx › Exome_summary

Analysis of protein-coding genetic variation in 60,706 humans.

Lek M et al.

Nature, 2016

27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table20.xlsx › SI_Table_20

bfb, a novel ENU-induced blebs mutant resulting from a missense mutation in Fras1.

Miller KA et al.

Plos One, 2013

Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.

Saisawat P et al.

Kidney International, 2012

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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."