Varaico: Literature-Extracted Genetic Variants

Gene:NRAP
Variant:p.L1488L
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NRAP

NM_198060.4:p.L1488L

Associated Papers

Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.

Koskenvuo JW et al.

Plos One, 2021

33534821 (PubMed )
Supplement: pone.0245681.s001.xlsx › Sheet1

Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.

Suzuki H et al.

Nature, 2019

31664194 (PubMed )
Supplement: NIHMS1539056-supplement-2.xlsx › Supplementary_Table_5
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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."