Varaico: Literature-Extracted Genetic Variants

Gene:SH3D21
Variant:p.R34W
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SH3D21

NM_001162530.2:p.R34W

Associated Papers

The landscape of RNA binding proteins in mammalian spermatogenesis.

Li Y et al.

Science (new York, N.y.), 2024

39208083 (PubMed )
Supplement: science.adj8172_tables_s1_to_s16.zip › science.adj8172_table_s14.xlsx › Candidate_Hom_DNS_LOF

Predicting valuable missense variants with AlphaMissense in a multiple pulmonary infection patient.

Wang T et al.

Clinical Case Reports, 2024

38292225 (PubMed )
Supplement: CCR3-12-e8453-s001.xlsx › SNP

Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish.

Lu S et al.

Theranostics, 2021

33456573 (PubMed )
Supplement: thnov11p2788s1.pdf

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_2
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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."