Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN4
Variant:p.H147R
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GEMIN4

NM_015721.3:p.H147R

Associated Papers

Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome.

Altassan R et al.

American Journal of Medical Genetics. Part A, 2022

A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.

Aldhalaan H et al.

Genes, 2021

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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."