Judged: two independent readers; copy check clear.

genetic defect

genetic defect A genetic defect is a disease-related change in a gene that can be identified by genetic testing.

A genetic defect is a disease-related change in a gene that can be identified by genetic testing. In this packet, the genetic defect causing the inherited disorder was the presence of two different variants in the PEX10 gene.

Sources

Drafting source: Huang Xiangjun; Deng Xinyue; Deng Xiong; Xu Hongbo; Deng Hao; Yuan Lamei. Identification of novel compound heterozygous variants in the PEX10 gene in a Han-Chinese family with PEX10 -related peroxisome biogenesis disorders. 2025; DOI 10.1371/journal.pone.0322137; article XML SHA-256 d012ca004ea74aedce50a2078b91203961d2904fcd901780de44ccb8fdace2eb. “Identification of novel compound heterozygous variants in the PEX10 gene in a Han-Chinese family with PEX10 -related peroxisome biogenesis disorders” (10.1371/journal.pone.0322137).
CC-BY-4.0 · Definition uses new wording; original source retains its stated licence. · Source snapshot SHA-256: d012ca004ea74aedce50a2078b91203961d2904fcd901780de44ccb8fdace2eb

These citations identify the drafting sources. 2/2 independent reader passes against the pinned source packet. The drafter does not count as a reader. Source institutions do not endorse this dictionary.

Cite this entry

PsychTerms (psychterms.org), CC BY 4.0, version 2. “genetic defect.” Development preview.

Version 2 · SHA-256: a2b7ec7f0162608ba7c3df77a0b74d9d1808f9df7d824b41ee4d609e64000b31

Edit this entry on GitHub

genetic defect

See also

Sources

Cite this entry