Varaico: Literature-Extracted Genetic Variants

Gene:ASTN1
Variant:p.Q1053fs
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ASTN1

NM_004319.3:p.Q1053fs

Associated Papers

Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.

Maddirevula S 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."