Varaico: Literature-Extracted Genetic Variants

Gene:ATG4C
Variant:p.K326Q
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ATG4C

NM_032852.4:p.K326Q

Associated Papers

A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females.

Loeuillet C et al.

Clinical Genetics, 2022

35460069 (PubMed )
Supplement: CGE-102-22-s001.xlsx › Feuil1

Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.

Olkinuora AP et al.

Frontiers in Oncology, 2022

36387175 (PubMed )
Supplement: Table_6.xlsx › Table_S6

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Feliubadaló L et al.

Scientific Reports, 2017

28050010 (PubMed )
Supplement: srep37984-s2.xls › Exome_geMODERATE_variants
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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."