Varaico: Literature-Extracted Genetic Variants

Gene:CCDC50
Variant:p.M332T
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CCDC50

NM_178335.3:p.M332T

Associated Papers

Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.

Linder A et al.

Human Reproduction (oxford, England), 2024

38459814 (PubMed )
Supplement: deae043_supplementary_table_s3.xlsx › Endometriosis

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R12365.xls › SNVIndel

A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.

Zhang D et al.

Annals of Human Genetics, 2022

35292975 (PubMed )
Supplement: AHG-86-207-s002.xlsx › RawData

Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Zhu YM et al.

Frontiers in Cell and Developmental Biology, 2021

34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_5

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Zhang X et al.

Bmc Neurology, 2018

30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index
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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."