Varaico: Literature-Extracted Genetic Variants

Gene:PCDHA6
Variant:p.R89Q
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PCDHA6

NM_018909.4:p.R89Q

Associated Papers

YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.

De Franco E et al.

The Journal of Clinical Investigation, 2020

33164986 (PubMed )
Supplement: jci-130-141455-s463.pdf

Cellular stressors contribute to the expansion of hematopoietic clones of varying leukemic potential.

Wong TN et al.

Nature Communications, 2018

29386642 (PubMed )
Supplement: 41467_2018_2858_MOESM8_ESM.xlsx › TAML-TMDS
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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."