Varaico: Literature-Extracted Genetic Variants

Gene:SALL1
Variant:p.N519D
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SALL1

NM_002968.3:p.N519D

Associated Papers

Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants.

Ma P et al.

Molecular Genetics & Genomic Medicine, 2024

Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome.

Innoceta AM et al.

Genes, 2023

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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."