Varaico: Literature-Extracted Genetic Variants

Gene:SPATA13
Variant:p.R268Q
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SPATA13

NM_001166271.3:p.R268Q

Associated Papers

Exome sequencing in families with chronic central serous chorioretinopathy.

Schellevis RL et al.

Molecular Genetics & Genomic Medicine, 2019

30724488 (PubMed )
Supplement: MGG3-7-na-s005.xlsx › Family_13

SF3B1 mutant MDS-initiating cells may arise from the haematopoietic stem cell compartment.

Mian SA et al.

Nature Communications, 2015

26643973 (PubMed )
Supplement: ncomms10004-s1.pdf
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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."