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A recurrent homozygous NHLRC1 variant in siblings with Lafora disease
Araya, Nami, Takahashi, Yukitoshi, Shimono, Masayuki, Fukuda, Tomofumi, Kato, Mitsuhiro, Nakashima, Mitsuko, Matsumoto, Naomichi, Saitsu, HirotomoVolume:
5
Language:
english
Journal:
Human Genome Variation
DOI:
10.1038/s41439-018-0015-9
Date:
December, 2018
File:
PDF, 3.86 MB
english, 2018