Publications:

Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid.

Jimd Reports

Messina, Martina M; Manea, Emanuela E; Cullup, Thomas T; Tuschl, Karin K; Batzios, Spyros S

Publication Date: 2023-01

Variant appearance in text: SI: 221G>A

PubMed Link: 36636587

Variant Present in the following documents:

• JMD2-64-42.pdf

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Assessing the potential of mutational strategies to elicit new phenotypes in industrial strains.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Klein-Marcuschamer, Daniel D; Stephanopoulos, Gregory G

Publication Date: 2008-02-19

Variant appearance in text: SI: R74K

PubMed Link: 18252819

Variant Present in the following documents:

• Main text

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