Varaico: Literature-Extracted Genetic Variants

Gene:MRPS15
Variant:p.P193A
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MRPS15

NM_031280.4:p.P193A

Associated Papers

CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability.

Kazeminasab S et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.

Vissers LELM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28333917 (PubMed )
Supplement: gim20171x1.zip › Vissers_GiM-D-16-00442__Supplementary_Table_4.xlsx › Suppl_Table_4

Elucidating the cancer-specific genetic alteration spectrum of glioblastoma derived cell lines from whole exome and RNA sequencing.

Patil V et al.

Oncotarget, 2015

26496030 (PubMed )
Supplement: oncotarget-06-43452-s003.xlsx › Cancer_Specific_Mutations
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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."