Varaico: Literature-Extracted Genetic Variants

Gene:SPTA1
Variant:p.R156W
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SPTA1

NM_003126.4:p.R156W

Associated Papers

Distal Renal Tubular Acidosis in an Iranian Patient with Hereditary Spherocytosis

Shahab-Movahed Z et al.

Iranian Biomedical Journal, 2021

Genetic analysis of microglandular adenosis and acinic cell carcinomas of the breast provides evidence for the existence of a low-grade triple-negative breast neoplasia family.

Geyer FC et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2017

27713419 (PubMed )
Supplement: NIHMS807185-supplement-8.pdf

Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability.

Dauber A et al.

Embo Molecular Medicine, 2016

26902202 (PubMed )
Supplement: EMMM-8-363-s001.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."