Varaico: Literature-Extracted Genetic Variants

Gene:CRTAP
Variant:p.R107delFs
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CRTAP

NM_006371.5:p.R107delFs

Associated Papers

Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil.

Migliavacca MP et al.

American Journal of Medical Genetics. Part A, 2024

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

van Dijk FS et al.

European Journal of Human Genetics : Ejhg, 2012

21829228 (PubMed )
Supplement: ejhg2011141x1.doc
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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."