Varaico: Literature-Extracted Genetic Variants

Gene:SALL4
Variant:p.V181M
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SALL4

NM_020436.5:p.V181M

Associated Papers

Screening of genes interacting with high myopia and neuropsychiatric disorders.

Liu Y et al.

Scientific Reports, 2023

Structure of SALL4 zinc finger domain reveals link between AT-rich DNA binding and Okihiro syndrome.

Watson JA et al.

Life Science Alliance, 2023

36635047 (PubMed )
Supplement: LSA-2022-01588_SdataF1.xlsx › Fig1a_ClinVar_uncertain_full

Current understanding of the genomic abnormities in premature ovarian failure: chance for early diagnosis and management.

Yang X et al.

Frontiers in Medicine, 2023

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

Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing.

Zu B et al.

Computational and Structural Biotechnology Journal, 2021

34194672 (PubMed )
Supplement: mmc1.xlsx › S3

Identification of potential causal variants for premature ovarian failure by whole exome sequencing.

Jin H et al.

Bmc Medical Genomics, 2020

The Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review.

Venturella R et al.

International Journal of Fertility & Sterility, 2019

Whole-exome sequencing reveals SALL4 variants in premature ovarian insufficiency: an update on genotype-phenotype correlations.

Wang Q et al.

Human Genetics, 2019

Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome.

Okumura T et al.

Plos One, 2015

Mutational analysis of SAL-Like 4 (SALL4) in Han Chinese women with premature ovarian failure.

Wang B et al.

Molecular Human Reproduction, 2009

Genetics of primary ovarian insufficiency: new developments and opportunities.

Qin Y et al.

Human Reproduction Update, 0

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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."