Varaico: Literature-Extracted Genetic Variants

Gene:FASTKD2
Variant:p.S345N
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FASTKD2

NM_001136193.2:p.S345N

Associated Papers

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.

Benkirane M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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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."