Varaico: Literature-Extracted Genetic Variants

Gene:NUTM2B
Variant:p.W713R
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NUTM2B

NM_001278495.2:p.W713R

Associated Papers

RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.

Wong S et al.

Embo Molecular Medicine, 2023

37066513 (PubMed )
Supplement: EMMM-15-e17078-s005.xlsx › Homozygous

Three-dimensional genomic mapping of human pancreatic tissue reveals striking multifocality and genetic heterogeneity in precancerous lesions.

Braxton AM et al.

Biorxiv : the Preprint Server for Biology, 2023

36747709 (PubMed )
Supplement: media-5.xlsx › 92

A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability.

Chia PH et al.

Elife, 2018

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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."