Varaico: Literature-Extracted Genetic Variants

Gene:MBD3L5
Variant:p.R51T
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MBD3L5

NM_001136507.2:p.R51T

Associated Papers

Novel CYLC1 variants are associated with male infertility due to sperm head deformity.

Yu K et al.

Journal of Assisted Reproduction and Genetics, 2025

A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family.

Shahid H et al.

The Yale Journal of Biology and Medicine, 2023

37781000 (PubMed )
Supplement: yjbm_96_3_383_appendixA.xlsx › Appendix_A
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