Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.A1728P
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ATRX

NM_000489.6:p.A1728P

Associated Papers

X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene.

Shakarami F et al.

Molecular Genetics & Genomic Medicine, 2022

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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."