Varaico: Literature-Extracted Genetic Variants

Gene:SNRPA
Variant:p.F34I
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SNRPA

NM_004596.5:p.F34I

Associated Papers

Exome sequencing reveals three homozygous missense variants in SNRPA in two sisters with syndromic intellectual disability.

Rangel-Sosa MM et al.

Clinical Genetics, 2018

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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."