Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.T726fs
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SETD5

NM_001080517.3:p.T726fs

Associated Papers

Neurobehavioral characteristics of mice with SETD5 mutations as models of IDD23 and KBG syndromes.

Nakagawa T et al.

Frontiers in Genetics, 2022

36685966 (PubMed )
Supplement: Image1.PDF

Genetic variations on SETD5 underlying autistic conditions.

Fernandes IR et al.

Developmental Neurobiology, 2018

SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.

Szczałuba K et al.

American Journal of Medical Genetics. Part A, 2016

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.

Grozeva D et al.

American Journal of Human Genetics, 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."