Varaico: Literature-Extracted Genetic Variants

Gene:PCDHA12
Variant:p.V758L
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PCDHA12

NM_018903.4:p.V758L

Associated Papers

Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria.

Rosain J et al.

Cell, 2023

36736301 (PubMed )
Supplement: NIHMS1860716-supplement-Supplementary_Tables.pdf

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL3
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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."