Varaico: Literature-Extracted Genetic Variants

Gene:SMARCAL1
Variant:p.H379P
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SMARCAL1

NM_014140.4:p.H379P

Associated Papers

Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD.

Jin J et al.

Frontiers in Genetics, 2019

A structure-specific nucleic acid-binding domain conserved among DNA repair proteins.

Mason AC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

Schimke immunoosseous dysplasia: suggestions of genetic diversity.

Clewing JM et al.

Human Mutation, 2007

Association of migraine-like headaches with Schimke immuno-osseous dysplasia.

Kilic SS et al.

American Journal of Medical Genetics. Part A, 2005

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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."