Varaico: Literature-Extracted Genetic Variants

Gene:RIF1
Variant:p.N1577S
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RIF1

NM_018151.5:p.N1577S

Associated Papers

Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia.

Pouliot GP et al.

Plos One, 2019

31721781 (PubMed )
Supplement: pone.0221288.s012.xlsx › Sheet_1

Hedgehog pathway mutations drive oncogenic transformation in high-risk T-cell acute lymphoblastic leukemia.

Burns MA et al.

Leukemia, 2018

29654263 (PubMed )
Supplement: NIHMS944706-supplement-Table_S2.xlsx › Table_S2

In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.

Weiss K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

28640243 (PubMed )
Supplement: gim201768x1.xlsx › All

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1045.400
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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."