Varaico: Literature-Extracted Genetic Variants

Gene:ARSH
Variant:p.P452A
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ARSH

NM_001011719.2:p.P452A

Associated Papers

Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism.

Chen J et al.

Journal of Medical Genetics, 2024

Genomic differences between pure ductal carcinoma in situ and synchronous ductal carcinoma in situ with invasive breast cancer.

Kim SY et al.

Oncotarget, 2015

25831047 (PubMed )
Supplement: oncotarget-06-7597-s002.xlsx › Table_S1
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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."