Varaico: Literature-Extracted Genetic Variants

Gene:RESP18
Variant:p.E30D
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RESP18

NM_001007089.4:p.E30D

Associated Papers

Identification of RESP18 Gene Mutations Linked to Hereditary Non-Syndromic Cleft Lip and Palate in a Southern Chinese Family.

Zhong X et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2024

Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Bateman NW et al.

Iscience, 2022

35036865 (PubMed )
Supplement: mmc2.xlsx › SupplementalTable1A

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Bakhchane A et al.

Plos One, 2017

28472130 (PubMed )
Supplement: pone.0176516.s002.xlsx › Feuil1

Comprehensive genetic and mutation analysis of familial dementia with Lewy bodies linked to 2q35-q36.

Meeus B et al.

Journal of Alzheimer's Disease : Jad, 2010

20164589 (PubMed )
Supplement: sj-pdf-1-alz-10.3233_jad-2010-1356.pdf
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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."