Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.P297P
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PTPN11

NM_002834.5:p.P297P

Associated Papers

Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.

Lacroix M et al.

The Journal of Investigative Dermatology, 2012

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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."