Clinical and Functional Characterization of Gain-of-Function ABL1 Variants Expands the Phenotypic Spectrum of CHDSKM.

Zarate YA, Oh S, Saldana Guzman JE, Matheny JP, Belgarde S, Garzon JP, Prada CE, Trueblood Z, Vera MU, Korotkov KV, Galperin E

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DOI: 10.1002/ajmg.a.70293
Published: 2026 Sep 1
Container: American journal of medical genetics. Part A
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1002/ajmg.a.70293,
  title = {Clinical and Functional Characterization of Gain-of-Function ABL1 Variants Expands the Phenotypic Spectrum of CHDSKM.},
  author = {Zarate YA and Oh S and Saldana Guzman JE and Matheny JP and Belgarde S and Garzon JP and Prada CE and Trueblood Z and Vera MU and Korotkov KV and Galperin E},
  year = {2026},
  journal = {American journal of medical genetics. Part A},
  doi = {10.1002/ajmg.a.70293},
  url = {https://doi.org/10.1002/ajmg.a.70293}
}

RIS

TY  - JOUR
TI  - Clinical and Functional Characterization of Gain-of-Function ABL1 Variants Expands the Phenotypic Spectrum of CHDSKM.
AU  - Zarate YA
AU  - Oh S
AU  - Saldana Guzman JE
AU  - Matheny JP
AU  - Belgarde S
AU  - Garzon JP
AU  - Prada CE
AU  - Trueblood Z
AU  - Vera MU
AU  - Korotkov KV
AU  - Galperin E
PY  - 2026
JO  - American journal of medical genetics. Part A
DO  - 10.1002/ajmg.a.70293
UR  - https://doi.org/10.1002/ajmg.a.70293
ER  -

APA

YA, Z., S, O., JE, S. G., JP, M., S, B., JP, G., CE, P., Z, T., MU, V., KV, K., & E, G. (2026). Clinical and Functional Characterization of Gain-of-Function ABL1 Variants Expands the Phenotypic Spectrum of CHDSKM.. American journal of medical genetics. Part A. https://doi.org/10.1002/ajmg.a.70293

Source records

pubmed · retrieved 2026-09-24T23:07:49.905Z