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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSAPL1

Variant:p.L304V

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PSAPL1

NM_001085382.2:p.L304V

hg38:chr4:7433970 G>C

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

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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."