Varaico: Literature-Extracted Genetic Variants

Gene:ZNF407
Variant:p.S1685W
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ZNF407

NM_017757.3:p.S1685W

Associated Papers

Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism.

Zahra Q et al.

Journal of Human Genetics, 2020

Genetic Variation in Human Gene Regulatory Factors Uncovers Regulatory Roles in Local Adaptation and Disease.

Perdomo-Sabogal Á et al.

Genome Biology and Evolution, 2019

Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome.

Kambouris M et al.

Orphanet Journal of Rare Diseases, 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."