Varaico: Literature-Extracted Genetic Variants

Gene:RTTN
Variant:p.K1064E
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RTTN

NM_173630.4:p.K1064E

Associated Papers

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.

Cavallin M et al.

European Journal of Medical Genetics, 2018

A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern.

Chartier S et al.

Birth Defects Research, 2018

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.

Shamseldin H et al.

American Journal of Human Genetics, 2015

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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."