Varaico: Literature-Extracted Genetic Variants

Gene:RIN2
Variant:p.I627fs
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RIN2

NM_001242581.2:p.I627fs

Associated Papers

Multiregion sampling of de novo metastatic prostate cancer reveals complex polyclonality and augments clinical genotyping.

Warner EW et al.

Nature Cancer, 2024

38177459 (PubMed )
Supplement: 43018_2023_692_MOESM11_ESM.xlsx › Sheet1

RIN2 syndrome: Expanding the clinical phenotype.

Rosato S et al.

American Journal of Medical Genetics. Part A, 2016

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.

Gardeitchik T et al.

European Journal of Human Genetics : Ejhg, 2014

Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2.

Aslanger AD et al.

American Journal of Medical Genetics. Part A, 2014

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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."