Varaico: Literature-Extracted Genetic Variants

Gene:SALL4
Variant:p.H888R
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SALL4

NM_020436.5:p.H888R

Associated Papers

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

Watson JA et al.

Life Science Alliance, 2023

Structural studies of SALL family protein zinc finger cluster domains in complex with DNA reveal preferential binding to an AATA tetranucleotide motif.

Ru W et al.

The Journal of Biological Chemistry, 2022

A de novo mutation of SALL4 in a Chinese family with Okihiro syndrome.

Ma X et al.

Molecular Medicine Reports, 2022

SALL4 controls cell fate in response to DNA base composition.

Pantier R et al.

Molecular Cell, 2021

Novel frameshift variant in gene SALL4 causing Okihiro syndrome.

Alves LU et al.

European Journal of Medical Genetics, 2016

Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.

Elmakky A et al.

Current Genomics, 2015

An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis.

Diehl A et al.

American Journal of Medical Genetics. Part A, 2015

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COBR

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_

Single median maxillary central incisor: new data and mutation review.

El-Jaick KB et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2007

IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus.

Paradisi I et al.

American Journal of Medical Genetics. Part A, 2007

A Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesis.

Warren M et al.

Genesis (new York, N.y. : 2000), 2007

A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.

Miertus J et al.

Human Genetics, 2006

Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.

Ullah E et al.

Ophthalmic Genetics, 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."