Varaico: Literature-Extracted Genetic Variants

Gene:HGFAC
Variant:p.S92W
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HGFAC

NM_001528.4:p.S92W

Associated Papers

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

A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary Lymphedema.

Melikhan-Revzin S et al.

Lymphatic Research and Biology, 2015

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 670.267
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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."