Varaico: Literature-Extracted Genetic Variants

Gene:MAP2K2
Variant:p.R231L
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MAP2K2

NM_030662.4:p.R231L

Associated Papers

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › MAP2K2

Successful treatment and integrated genomic analysis of an infant with FIP1L1-RARA fusion-associated myeloid neoplasm.

Miltiadous O et al.

Blood Advances, 2022

Monogenic causes of chronic kidney disease in adults.

Connaughton DM et al.

Kidney International, 2019

Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma.

De Mattos-Arruda L et al.

Nature Communications, 2015

26554728 (PubMed )
Supplement: ncomms9839-s3.xlsx › Sheet1
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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."