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vrijdag 26 oktober 2018

Human Genome Variation - Table of Contents alert Volume 5, October 2018

Human Genome Variation

Table of Contents: October 2018

Data Report | 23 October 2018

A novel CUL7 mutation in a Japanese patient with 3M syndrome

Tomozumi Takatani, Tadashi Shiohama, Rieko Takatani & Naoki Shimojo

Human Genome Variation 5 , Article number: 30 |  doi: 10.1038/s41439-018-0029-3

Software Report | 22 October 2018

eLD: entropy-based linkage disequilibrium index between multiallelic sites

Yukinori Okada

Human Genome Variation 5 , Article number: 29 |  doi: 10.1038/s41439-018-0030-x

Data Report | 05 October 2018

Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients

Kaori Irahara-Miyana, Takashi Enokizono, Keiichi Ozono & Norio Sakai

Human Genome Variation 5 , Article number: 28 |  doi: 10.1038/s41439-018-0027-5

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