Varaico: Literature-Extracted Genetic Variants

Gene:RTTN
Variant:p.H585R
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RTTN

NM_173630.4:p.H585R

Associated Papers

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.

Vandervore LV et al.

Brain : a Journal of Neurology, 2019

Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.

Stouffs K et al.

European Journal of Medical Genetics, 2018

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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."