Varaico: Literature-Extracted Genetic Variants

Gene:CEP57
Variant:p.A231V
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CEP57

NM_014679.5:p.A231V

Associated Papers

Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia.

Kasak L et al.

American Journal of Human Genetics, 2018

Genotype-phenotype correlations in biallelic carriers of FANCM protein truncating variants: A systematic literature review.

Figlioli G et al.

Mutation Research. Reviews in Mutation Research, 0

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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."