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Clinical Features and Functional Analysis of Compound-Heterozygous RAB27A Variants in Griscelli Syndrome Type 2 with Sine Albinism

Tatsuhiko Tanaka, Akira Sugawara, Ryuhei Yasuoka, Kimiyoshi Sakaguchi, Osamu Natsume, Kentaro Haga, Yuto Maruta, Akie Kobayashi, Tomohiko Sato, Erina Saito, Satoko Minakawa, Yuiko Hirata, Hirofumii Shibata, Yasumi Takahiro, Masaki Shimizu, Hirokazu Kanegane, Ko Kudo, Mitsunori Fukuda, Kiminori Teui
Journal: Journal of Human Immunity
Series: JSIAD Meeting Abstracts 2026
J Hum Immun (2026) 2 (JSIAD2026): eJSIAD2026abstract.46.
https://doi.org/10.70962/JSIAD2026abstract.46
Published: 04 June 2026
View article titled, Clinical Features and Functional Analysis of Compound-Heterozygous RAB27A Variants in Griscelli Syndrome Type 2 with Sine Albinism
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