Publications:

Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA: A case report.

Jimd Reports

Yokoi, Katsuyuki K; Nakajima, Yoko Y; Sudo, Yuta Y; Mariya, Tasuku T; Kawamura, Rie R; Tsutsumi, Makiko M; Inagaki, Hidehito H; Yoshikawa, Tetsushi T; Ito, Tetsuya T; Kurahashi, Hiroki H

Publication Date: 2022-11

Variant appearance in text: TG: 550delT

PubMed Link: 36341163

Variant Present in the following documents:

• JMD2-63-575.pdf

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K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells

Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC

Publication Date: 2020-10-31

Variant appearance in text: TG: 550delT

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

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Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients.

Iranian Journal Of Public Health

Aryan, H H; Aryani, O O; Banihashemi, K K; Zaman, T T; Houshmand, M M

Publication Date: 2012

Variant appearance in text: TG: 550delT

PubMed Link: 23113155

Variant Present in the following documents:

• Main text
• ijph-41-112.pdf

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