Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A1
Variant:p.C41W
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SLC26A1

NM_022042.4:p.C41W

Associated Papers

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › c__Freq_TP092

A role for TENM1 mutations in congenital general anosmia.

Alkelai A et al.

Clinical Genetics, 2016

27040985 (PubMed )
Supplement: supplement_1.pdf

Extracellular Cl(-) regulates human SO4 (2-)/anion exchanger SLC26A1 by altering pH sensitivity of anion transport.

Wu M et al.

Pflugers Archiv : European Journal of Physiology, 2016

Familial acidosis of renal tubular origin.

WILANSKY DL et al.

Canadian Medical Association Journal, 1960

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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."