Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.T94P
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PPT1

NM_000310.4:p.T94P

Associated Papers

[Analysis of a child with CLN1 neuronal ceroid lipofuscinosis in conjunct with Hereditary hyperferinemia cataract syndrome].

Zhou F et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024

Phenotypic variability observed in a Chinese patient cohort with biallelic variants in the CLN genes.

Zhang X et al.

Molecular Vision, 2024

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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."