Varaico: Literature-Extracted Genetic Variants

Gene:RILP
Variant:p.A156T
Back to variants list

RILP

NM_031430.3:p.A156T

Associated Papers

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.

Osborn DPS et al.

American Journal of Human Genetics, 2017

28190459 (PubMed )
Supplement: mmc2.xlsx › Table_S4_candidate_genes_
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."