Varaico: Literature-Extracted Genetic Variants

Gene:SPANXD
Variant:p.V68L
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SPANXD

NM_032417.4:p.V68L

Associated Papers

A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report.

Liu Q et al.

Bmc Medical Genetics, 2018

29587644 (PubMed )
Supplement: 12881_2018_564_MOESM1_ESM.xlsx › __1

The genomic landscape of malignant peripheral nerve sheath tumors: diverse drivers of Ras pathway activation.

Brohl AS et al.

Scientific Reports, 2017

29118384 (PubMed )
Supplement: 41598_2017_15183_MOESM1_ESM.pdf

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s005.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."