Varaico: Literature-Extracted Genetic Variants

Gene:BCORL1
Variant:p.R1149W
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BCORL1

NM_001379451.1:p.R1149W

Associated Papers

CSF3R T618I mutated chronic myelomonocytic leukemia: A proliferative subtype with a distinct mutational profile.

Kwon A et al.

Leukemia Research Reports, 2022

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

Hu H et al.

Molecular Psychiatry, 2016

25644381 (PubMed )
Supplement: mp2014193x1.pdf

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.

Philips AK et al.

Orphanet Journal of Rare Diseases, 2014

24721225 (PubMed )
Supplement: 1750-1172-9-49-S1.xls › Sheet1
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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."