Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.R2515C
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ZFHX3

NM_001164766.2:p.R2515C

Associated Papers

The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1.

Ott T et al.

Frontiers in Physiology, 2019

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.

Arno G et al.

American Journal of Human Genetics, 2016

27889058 (PubMed )
Supplement: mmc1.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."