Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L436H
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CFTR

NM_000492.4:p.L436H

Associated Papers

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report.

Picher-Martel V et al.

Bmc Neurology, 2020

Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure.

Lewis HA et al.

The Journal of Biological Chemistry, 2005

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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."