Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.I54T
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PMS2

NM_000535.7:p.I54T

Associated Papers

Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.

Wang Q et al.

Journal of Medical Genetics, 2020

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

Lavoine N et al.

Journal of Medical Genetics, 2015

Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium.

Guerrini-Rousseau L et al.

Neuro-oncology Advances, 0

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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."