Varaico: Literature-Extracted Genetic Variants

Gene:KLHL35
Variant:p.P75T
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KLHL35

NM_001039548.3:p.P75T

Associated Papers

De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.

Garg A et al.

American Journal of Medical Genetics. Part A, 2014

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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."