Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.K91K
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PTPN11

NM_002834.5:p.K91K

Associated Papers

Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?

Ferrari L et al.

European Journal of Human Genetics : Ejhg, 2020

32514133 (PubMed )
Supplement: 41431_2020_658_MOESM2_ESM.xlsx › 8pz.annot

Functional variation of SHP-2 promoter is associated with preterm birth and delayed myelination and motor development in preterm infants.

Shim SY et al.

Scientific Reports, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."