Varaico: Literature-Extracted Genetic Variants

Gene:SALL4
Variant:p.R418C
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SALL4

NM_020436.5:p.R418C

Associated Papers

Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency.

Turkyilmaz A et al.

Journal of Assisted Reproduction and Genetics, 2022

Genetic etiologic analysis in 74 Chinese Han women with idiopathic premature ovarian insufficiency by combined molecular genetic testing.

Shen J et al.

Journal of Assisted Reproduction and Genetics, 2021

Distinct Mutation Patterns Reveal Melanoma Subtypes and Influence Immunotherapy Response in Advanced Melanoma Patients.

Hilke FJ et al.

Cancers, 2020

32825510 (PubMed )
Supplement: cancers-12-02359-s001.zip › cancers-898298-supplementary › SupplementTable_1-14_20200710.xlsx › Table_S5

Genetic Analyses Identified a SALL4 Gene Mutation Associated with Holt-Oram Syndrome.

Li B et al.

Dna and Cell Biology, 2018

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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."