Varaico: Literature-Extracted Genetic Variants

Gene:ZNF484
Variant:p.K203R
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ZNF484

NM_031486.4:p.K203R

Associated Papers

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.

Hollstein R et al.

Journal of Medical Genetics, 2015

26424145 (PubMed )
Supplement: jmedgenet-2015-103344-s2.pdf
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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."