Nami Araya Yukitoshi Takahashi Masayuki Shimono Tomofumi Fukuda Mitsuhiro Kato Mitsuko Nakashima Naomichi Matsumoto Hirotomo Saitsu
10.1038/s41439-018-0015-9
Hum Genome Var
2018 Jul 12;5:16.
CC BY
https://pubmed.ncbi.nlm.nih.gov/30083360/
Case Reports
PMC6043589
30083360
A recurrent homozygous NHLRC1 variant in siblings with Lafora disease
2018