Varaico: Literature-Extracted Genetic Variants

Gene:MASTL
Variant:p.R43L
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MASTL

NM_001172303.3:p.R43L

Associated Papers

Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.

Wahlster L et al.

The Journal of Experimental Medicine, 2021

A Rare Big Chinese Family With Thrombocytopenia 2: A Case Report and Literature Review.

Tan C et al.

Frontiers in Genetics, 2020

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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."