Varaico: Literature-Extracted Genetic Variants

Gene:FAM50B
Variant:p.R98Q
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FAM50B

NM_012135.3:p.R98Q

Associated Papers

Summarizing the human genes and their variants causative of non-obstructive azoospermia uncovered using whole genome/exome sequencing.

Ibrahim R et al.

Reproductive Biology, 2025

A genetic variant in SMAD7 acts as a modifier of LMNA-associated muscular dystrophy, implicating SMAD signaling as a therapeutic target.

Mohar NP et al.

Science Advances, 2025

40249815 (PubMed )
Supplement: sciadv.ads7903_data_s1.zip › ads7903_data_s1.xlsx › VariantTable_121

Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia.

Malcher A et al.

Andrology, 2022

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