Varaico: Literature-Extracted Genetic Variants

Gene:GABRA4
Variant:p.R466Q
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GABRA4

NM_000809.4:p.R466Q

Associated Papers

Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).

Riedhammer KM et al.

Kidney International, 2024

38154558 (PubMed )
Supplement: mmc2.xlsx › Family_1

SLC19A1 Genetic Variation Leads to Altered Thiamine Diphosphate Transport: Implications for the Risk of Developing Wernicke-Korsakoff's Syndrome.

O'Brien NL et al.

Alcohol and Alcoholism (oxford, Oxfordshire), 2022

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 2._minor_allele_frequency_1
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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."