Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.H139Y
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CLN8

NM_018941.4:p.H139Y

Associated Papers

TRAM-LAG1-CLN8 family proteins are acyltransferases regulating phospholipid composition.

Sheokand PK et al.

Science Advances, 2025

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

Kousi M et al.

Human Mutation, 2012

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