Varaico: Literature-Extracted Genetic Variants

Gene:NFIA
Variant:p.K125N
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NFIA

NM_001134673.4:p.K125N

Associated Papers

Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.

Uehara T et al.

American Journal of Medical Genetics. Part A, 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."