Varaico: Literature-Extracted Genetic Variants

Gene:SFSWAP
Variant:p.T565A
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SFSWAP

NM_004592.4:p.T565A

Associated Papers

Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.

Bisikirska B et al.

Science Translational Medicine, 2024

39413162 (PubMed )
Supplement: scitranslmed.adj0085_data_files_s1_to_s10.zip › adj0085_data_file_s1.xlsx › Sheet1

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

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.

Bilgüvar K et al.

Nature, 2010

20729831 (PubMed )
Supplement: NIHMS218517-supplement-1.doc
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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."