Varaico: Literature-Extracted Genetic Variants

Gene:RESP18
Variant:p.E170K
Back to variants list

RESP18

NM_001007089.4:p.E170K

Associated Papers

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.

Hettiaracchchi D et al.

Bmc Medical Genetics, 2018

30041615 (PubMed )
Supplement: 12881_2018_646_MOESM1_ESM.xlsx › 949_variants

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1696.600
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."