OBO ID: DOID:0060409

Citations

(1 total)

Term: NFIA-related disorder

Uehara, T., Sanuki, R., Ogura, Y., Yokoyama, A., Yoshida, T., Futagawa, H., Yoshihashi, H., Yamada, M., Suzuki, H., Takenouchi, T., Matsubara, K., Hirata, H., Kosaki, K., Takano-Shimizu, T. (2021) Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles. American journal of medical genetics. Part A. 185(7):2084-2093
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