Publications:

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease.

Nature Communications

Martin, Paige B PB; Kigoshi-Tansho, Yu Y; Sher, Roger B RB; Ravenscroft, Gianina G; Stauffer, Jennifer E JE; Kumar, Rajesh R; Yonashiro, Ryo R; Müller, Tina T; Griffith, Christopher C; Allen, William W; Pehlivan, Davut D; Harel, Tamar T; Zenker, Martin M; Howting, Denise D; Schanze, Denny D; Faqeih, Eissa A EA; Almontashiri, Naif A M NAM; Maroofian, Reza R; Houlden, Henry H; Mazaheri, Neda N; Galehdari, Hamid H; Douglas, Ganka G; Posey, Jennifer E JE; Ryan, Monique M; Lupski, James R JR; Laing, Nigel G NG; Joazeiro, Claudio A P CAP; Cox, Gregory A GA

Publication Date: 2020-09-15

Variant appearance in text: F2: D98A

PubMed Link: 32934225

Variant Present in the following documents:

• Main text
• 41467_2020_Article_18327.pdf

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Novel allelic variant of Lpa1 gene associated with a significant reduction in seed phytic acid content in rice (Oryza sativa L.).

Plos One

Kishor, D S DS; Lee, Choonseok C; Lee, Dongryung D; Venkatesh, Jelli J; Seo, Jeonghwan J; Chin, Joong Hyoun JH; Jin, Zhuo Z; Hong, Soon-Kwan SK; Ham, Jin-Kwan JK; Koh, Hee Jong HJ

Publication Date: 2019

Variant appearance in text: F2: Asp98Ala

PubMed Link: 30870429

Variant Present in the following documents:

• Main text
• pone.0209636.pdf

View BVdb publication page