Varaico: Literature-Extracted Genetic Variants

Gene:NSMF
Variant:p.S237Splc
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NSMF

NM_001130969.3:p.S237Splc

Associated Papers

Toward clinical exomes in diagnostics and management of male infertility.

Lillepea K et al.

American Journal of Human Genetics, 2024

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › individual
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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."