Varaico: Literature-Extracted Genetic Variants

Gene:MRTFA
Variant:p.A252V
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MRTFA

NM_020831.6:p.A252V

Associated Papers

Genetic characterization of Schuurs-Hoeijmakers syndrome in a moroccan individual with heterozygote PACS1 mutation.

Abbassi M et al.

Molecular Biology Reports, 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."