Intron Retention Caused by a Novel Homozygous <i>LNPK</i> Splice‐Site Variant Leading to Severe Neurodevelopmental Disorder and Epilepsy

Ezgi Gökpınar İli, Hüseyin İlbasmış, Şule Altıner, Seda Kaynak Şahap, Serap Tıraş Teber

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DOI: 10.1002/ajmg.b.70042
Published: 2026-11-03
Container: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Publisher: Wiley
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1002/ajmg.b.70042,
  title = {Intron Retention Caused by a Novel Homozygous
                    <i>LNPK</i>
                    Splice‐Site Variant Leading to Severe Neurodevelopmental Disorder and Epilepsy},
  author = {Ezgi Gökpınar İli and Hüseyin İlbasmış and Şule Altıner and Seda Kaynak Şahap and Serap Tıraş Teber},
  year = {2026},
  journal = {American Journal of Medical Genetics Part B: Neuropsychiatric Genetics},
  doi = {10.1002/ajmg.b.70042},
  url = {https://doi.org/10.1002/ajmg.b.70042}
}

RIS

TY  - JOUR
TI  - Intron Retention Caused by a Novel Homozygous
                    <i>LNPK</i>
                    Splice‐Site Variant Leading to Severe Neurodevelopmental Disorder and Epilepsy
AU  - Ezgi Gökpınar İli
AU  - Hüseyin İlbasmış
AU  - Şule Altıner
AU  - Seda Kaynak Şahap
AU  - Serap Tıraş Teber
PY  - 2026
JO  - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
DO  - 10.1002/ajmg.b.70042
UR  - https://doi.org/10.1002/ajmg.b.70042
ER  -

APA

İli, E. G., İlbasmış, H., Altıner, Ş., Şahap, S. K., & Teber, S. T. (2026). Intron Retention Caused by a Novel Homozygous <i>LNPK</i> Splice‐Site Variant Leading to Severe Neurodevelopmental Disorder and Epilepsy. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. https://doi.org/10.1002/ajmg.b.70042

Source records

crossref · retrieved 2026-11-05T22:59:49.994Z