Varaico: Literature-Extracted Genetic Variants

Gene:MAP7D1
Variant:p.R201W
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MAP7D1

NM_001388490.1:p.R201W

Associated Papers

A novel MAP7D1 mutation causes mitotic defects and RPS14 accumulation in Shwachman-Diamond syndrome patient cells.

Kucukvardar S et al.

Disease Models & Mechanisms, 2025

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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."