Varaico: Literature-Extracted Genetic Variants

Gene:CDH11
Variant:p.I372_S373Fs
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CDH11

NM_001797.4:p.I372_S373Fs

Associated Papers

Detailed clinical and radiological features of the first patient with Elsahy-Waters syndrome in East Asia.

Minatogawa M et al.

American Journal of Medical Genetics. Part A, 2021

Elsahy-Waters syndrome is caused by biallelic mutations in CDH11.

Harms FL et al.

American Journal of Medical Genetics. Part A, 2018

Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.

Taskiran EZ et al.

American Journal of Medical Genetics. Part A, 2017

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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."