Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A3
Variant:p.K308E
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SLC25A3

NM_002635.4:p.K308E

Associated Papers

Variants of the PTPN11 Gene in Mexican Patients with Noonan Syndrome.

Zepeda-Olmos PM et al.

Genes, 2024

Acute lymphoblastic leukemia developing in a patient with Noonan syndrome harboring a PTPN11 germline mutation.

Sakamoto K et al.

Journal of Pediatric Hematology/oncology, 2014

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

Jongmans MC et al.

European Journal of Human Genetics : Ejhg, 2011

Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype?

Kitsiou-Tzeli S et al.

Hormone Research, 2006

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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."