Varaico: Literature-Extracted Genetic Variants

Gene:CFAP119
Variant:p.A28T
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CFAP119

NM_001014979.3:p.A28T

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-s003.pdf

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

Chia PH et al.

Elife, 2018

Embryonic signature distinguishes pediatric and adult rhabdoid tumors from other SMARCB1-deficient cancers.

Richer W et al.

Oncotarget, 2017

28427232 (PubMed )
Supplement: oncotarget-08-34245-s004.xlsx › Sheet_1
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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."