Varaico: Literature-Extracted Genetic Variants

Gene:ATP10B
Variant:p.A1005D
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ATP10B

NM_025153.3:p.A1005D

Associated Papers

Biallelic variants in MAD2L1BP (p31comet) cause female infertility characterized by oocyte maturation arrest.

Huang L et al.

Elife, 2023

37334967 (PubMed )
Supplement: elife-85649-table2-data1.zip › Table_2_-source_data_1.docx

The mutation spectrum of Parkinson-disease-related genes in early-onset Parkinson's disease in ethnic Chinese.

Chen YP et al.

European Journal of Neurology, 2022

35861376 (PubMed )
Supplement: supplement_1.pdf

ATP10B and the Risk for Early-Onset Parkinson's Disease.

Li C et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2020

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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."