Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.L76P
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GFAP

NM_002055.5:p.L76P

Associated Papers

A systematic review and meta-analysis of GFAP gene variants in Alexander disease.

Grossi A et al.

Scientific Reports, 2024

39420046 (PubMed )
Supplement: 41598_2024_75383_MOESM2_ESM.xlsx › Suppl._Table_2

Liver pathology and biochemistry in patients with mutations in TRIM37 gene (Mulibrey nanism).

Sivunen J et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2022

Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation.

Grossi A et al.

Frontiers in Genetics, 2021

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