Publications:

Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.

Human Genome Variation

Nagaoka, Shinichi S; Yamaguchi-Kabata, Yumi Y; Shiga, Naomi N; Tachibana, Masahito M; Yasuda, Jun J; Tadaka, Shu S; Tamiya, Gen G; Fuse, Nobuo N; Kinoshita, Kengo K; Kure, Shigeo S; Murotsuki, Jun J; Yamamoto, Masayuki M; Yaegashi, Nobuo N; Sugawara, Junichi J

Publication Date: 2021-01-15

Variant appearance in text: rs144217842

PubMed Link: 33452237

Variant Present in the following documents:

• 41439_2020_133_MOESM1_ESM.xlsx, sheet 1

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