Varaico: Literature-Extracted Genetic Variants

Gene:GZF1
Variant:p.T352fs
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GZF1

NM_022482.5:p.T352fs

Associated Papers

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1

Autosomal Recessive Stickler Syndrome.

Nixon TRW et al.

Genes, 2022

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.

Patel N et al.

American Journal of Human Genetics, 2017

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