Varaico: Literature-Extracted Genetic Variants

Gene:AK1
Variant:p.R97W
Back to variants list

AK1

NM_000476.3:p.R97W

Associated Papers

Red cell adenylate kinase deficiency in China: molecular study of 2 new mutations (413G > A, 223dupA).

He S et al.

Bmc Medical Genomics, 2022

Rare hereditary nonspherocytic hemolytic anemia caused by a novel homozygous mutation, c.301C > A, (Q101K), in the AK1 gene in an Indian family.

Dongerdiye R et al.

Bmc Medical Genomics, 2021

Red cell adenylate kinase deficiency in India: identification of two novel missense mutations (c.71A>G and c.413G>A).

Dongerdiye R et al.

Journal of Clinical Pathology, 2019

The genomic landscape of pediatric Ewing sarcoma.

Crompton BD et al.

Cancer Discovery, 2014

25186949 (PubMed )
Supplement: 21598290cd131037-sup-124608_2_supp_2613704_ndcnpj.xlsx › Mutation_List_PoN

[Rare case of hereditary nonspherocytic anemia caused by glyceraldehydephosphate dehydrogenase deficiency in erythrocytes].

Reznik BIa et al.

Problemy Gematologii I Perelivaniia Krovi, 1972

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."